A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016119



Internal ID18758654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7529510..7886530hg38UCSC Ensembl
Innerchr8:7387032..7744052hg19UCSC Ensembl
Innerchr8:7374442..7781462hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38357021
hg19357021
hg18407021
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6948n100
Supporting Variantsnssv3680600, nssv3680599, nssv3680598
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, 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)nsv1016119
Frequency
Sample Size29084
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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