A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17703067



Internal ID126733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:50098294..50154681hg38UCSC Ensembl
chr15:50390491..50446878hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg3856388
hg1956388
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5521370
Supporting Variants
Samples
Known GenesATP8B4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17703067
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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