A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3681001



Internal ID18632596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7888834..7969388hg38UCSC Ensembl
Innerchr8:7746356..7826910hg19UCSC Ensembl
Innerchr8:7783766..7864320hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3880555
hg1980555
hg1880555
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1030300
Supporting Variants
Samples
Known GenesDEFB4A, FAM66E, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3681001
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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