A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16991731



Internal ID61914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:1089951..1089971hg38UCSC Ensembl
chr7:1129587..1129607hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38207
hg19207
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5534293
Supporting Variants
Samples
Known GenesC7orf50, GPER1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16991731
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00125


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