A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032556



Internal ID18775090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7172456..7598490hg38UCSC Ensembl
Innerchr8:7029978..7456012hg19UCSC Ensembl
Innerchr8:7017388..7443422hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38426035
hg19426035
hg18426035
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6885n100
Supporting Variantsnssv3677650
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4B, FAM66B, FAM90A7P, LINC00965, 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)nsv1032556
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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