A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17703061



Internal ID126727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:50050769..50050783hg38UCSC Ensembl
chr15:50342966..50342980hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5540436
Supporting Variants
Samples
Known GenesATP8B4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17703061
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.008742


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