A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17001931



Internal ID68890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:81712199..81714524hg38UCSC Ensembl
chr7:81341515..81343840hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg382326
hg192326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5481265
Supporting Variants
Samples
Known GenesHGF
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17001931
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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