A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17020920



Internal ID81588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:22272000..22488000hg38UCSC Ensembl
chr9:22271999..22487999hg19UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg38216001
hg19216001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5486371
Supporting Variants
Samples
Known GenesDMRTA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17020920
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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