A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3583086



Internal ID18881367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:178903632..178978885hg38UCSC Ensembl
Innerchr2:179768359..179843612hg19UCSC Ensembl
Innerchr2:179476604..179551857hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3875254
hg1975254
hg1875254
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1000545
Supporting Variants
Samples
Known GenesCCDC141
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3583086
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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