A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017653



Internal ID18760187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7439806..7535423hg38UCSC Ensembl
Innerchr8:7297328..7392945hg19UCSC Ensembl
Innerchr8:7284738..7380355hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3895618
hg1995618
hg1895618
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6941n100
Supporting Variantsnssv3680257, nssv3680252, nssv3680253, nssv3680259, nssv3680255, nssv3756524, nssv3680260, nssv3680254, nssv3680251, nssv3680258, nssv3680256
Samples
Known GenesDEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017653
Frequency
Sample Size29084
Observed Gain5
Observed Loss6
Observed Complex0
Frequencyn/a


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