A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16992668



Internal ID62583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:11521462..11521709hg38UCSC Ensembl
chr7:11561089..11561336hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5471489
Supporting Variants
Samples
Known GenesTHSD7A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16992668
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.13757


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