A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17377208



Internal ID22435078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:53592250..54165116hg38UCSC Ensembl
chr15:53884447..54457313hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg38572867
hg19572867
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5937745
Supporting Variants
Samples
Known GenesUNC13C, WDR72
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17377208
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.50


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