A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020884



Internal ID18763418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7775544..7902059hg38UCSC Ensembl
Innerchr8:7633066..7759581hg19UCSC Ensembl
Innerchr8:7670476..7796991hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38126516
hg19126516
hg18126516
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6959n100
Supporting Variantsnssv3753708
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, PRR23D1, PRR23D2, SPAG11A, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020884
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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