A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2996513



Internal ID15235373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:1545246..1709424hg38UCSC Ensembl
Innerchr8:1493412..1657590hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38164179
hg19164179
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv482921
Supporting Variants
Samples
Known GenesDLGAP2, LOC100507435
MethodBAC aCGH
Analysis
PlatformSpectral Genomics 2600 BAC array
Comments
ReferenceIafrate_et_al_2004
Pubmed ID15286789
Accession Number(s)nssv2996513
Frequency
Sample Size39
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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