Variation class
CNV(SO:0001019)
Allele type(s)
gain(SO:0001742)
Source
DGVa - Database of Genomic Variants Archive
Study
estd186 - Thevenon 2012 "Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability." PMID:22693284 [remapped from build NCBI36]
Clinical significance 
Location
Chromosome 1:6941117-7525200 (forward strand) | View in location tab
Inner coordinates: 1:6959785-7499528
Genomic size
584,084 bp
About this structural variant
This structural variant overlaps 15 transcripts and is supported by 1 piece of evidence.