A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16996322



Internal ID64998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43113878..43113878hg38UCSC Ensembl
chr7:43153477..43153477hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38253
hg19253
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5551112
Supporting Variants
Samples
Known GenesHECW1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16996322
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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