A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17007319



Internal ID72516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7885127..7897200hg38UCSC Ensembl
chr8:7742649..7754722hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3812074
hg1912074
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6142057
Supporting Variants
Samples
Known GenesDEFB4A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17007319
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.135417


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