A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022960



Internal ID18765494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7397514..7969388hg38UCSC Ensembl
Innerchr8:7255036..7826910hg19UCSC Ensembl
Innerchr8:7242446..7864320hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38571875
hg19571875
hg18621875
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6911n100
Supporting Variantsnssv3679692, nssv3679691
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, FAM66E, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022960
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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