A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17702822



Internal ID126488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:53592250..54165117hg38UCSC Ensembl
chr15:53884447..54457314hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg38572868
hg19572868
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5521888
Supporting Variants
Samples
Known GenesUNC13C, WDR72
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17702822
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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