A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016285



Internal ID18758820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7775544..7925628hg38UCSC Ensembl
Innerchr8:7633066..7783150hg19UCSC Ensembl
Innerchr8:7670476..7820560hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38150085
hg19150085
hg18150085
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6961n100
Supporting Variantsnssv3680819, nssv3680821, nssv3680820
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)nsv1016285
Frequency
Sample Size29084
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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