A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17012956



Internal ID76312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:70376587..70381298hg38UCSC Ensembl
chr8:71288822..71293533hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg384712
hg194712
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5488069
Supporting Variants
Samples
Known GenesNCOA2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17012956
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000937


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