A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021185



Internal ID18763719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7527733..7880901hg38UCSC Ensembl
Innerchr8:7385255..7738423hg19UCSC Ensembl
Innerchr8:7372665..7775833hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38353169
hg19353169
hg18403169
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6949n100
Supporting Variantsnssv3680564, nssv3680565
Samples
Known GenesDEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, FAM90A10P, FAM90A7P, 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)nsv1021185
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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