A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019847



Internal ID18762382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7357077..7919096hg38UCSC Ensembl
Innerchr8:7214599..7776618hg19UCSC Ensembl
Innerchr8:7202009..7814028hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38562020
hg19562020
hg18612020
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6909n100
Supporting Variantsnssv3678574, nssv3678573
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1019847
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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