A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429767



Internal ID208603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:38880200..38891043hg38UCSC Ensembl
chr1:39345872..39356715hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3810844
hg1910844
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904759
Samples
Known GenesGJA9, GJA9-MYCBP, RHBDL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429767
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer