A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16927040



Internal ID18738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:235010834..235011207hg38UCSC Ensembl
chr2:235919478..235919851hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38374
hg19374
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139521
Supporting Variants
Samples
Known GenesSH3BP4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16927040
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.131009


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