A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17028557



Internal ID86735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:121487805..121491753hg38UCSC Ensembl
chr9:124250083..124254031hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg383949
hg193949
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5478289
Supporting Variants
Samples
Known GenesGGTA1P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17028557
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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