A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034726



Internal ID18777259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7425003..7780682hg38UCSC Ensembl
Innerchr8:7282525..7638204hg19UCSC Ensembl
Innerchr8:7269935..7675614hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38355680
hg19355680
hg18405680
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6926n100
Supporting Variantsnssv3680140
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034726
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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