A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17010370



Internal ID74544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:24503107..24503209hg38UCSC Ensembl
chr8:24360620..24360722hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5493237
Supporting Variants
Samples
Known GenesADAM7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17010370
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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