A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713071



Internal ID136737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39964379..39998368hg38UCSC Ensembl
chr17:38120632..38154621hg19UCSC Ensembl
Cytoband17q21.1
Allele length
AssemblyAllele length
hg3833990
hg1933990
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5531677
Supporting Variants
Samples
Known GenesGSDMA, PSMD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713071
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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