A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16996326



Internal ID65002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43141671..43144352hg38UCSC Ensembl
chr7:43181270..43183951hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg382682
hg192682
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5481274
Supporting Variants
Samples
Known GenesHECW1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16996326
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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