A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3677450



Internal ID18629045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7021319..7941317hg38UCSC Ensembl
Innerchr8:6878841..7798839hg19UCSC Ensembl
Innerchr8:6866251..7836249hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38919999
hg19919999
hg18969999
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1018704
Supporting Variants
Samples
Known GenesDEFA11P, DEFA5, DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM90A10P, FAM90A7P, LINC00965, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L1P, USP17L4, ZNF705B, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3677450
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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