A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030493



Internal ID18773024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7417218..7545918hg38UCSC Ensembl
Innerchr8:7274740..7403440hg19UCSC Ensembl
Innerchr8:7262150..7390850hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38128701
hg19128701
hg18128701
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6932n100
Supporting Variantsnssv3680112, nssv3680111, nssv3680113
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, PRR23D1, PRR23D2, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030493
Frequency
Sample Size29084
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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