A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3677915



Internal ID18976196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7329098..7778314hg38UCSC Ensembl
Innerchr8:7186620..7635836hg19UCSC Ensembl
Innerchr8:7174030..7673246hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38449217
hg19449217
hg18499217
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1025714
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, FAM66B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11B, USP17L1P, USP17L4, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3677915
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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