A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020139



Internal ID18762675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7894514..7930248hg38UCSC Ensembl
Innerchr8:7752036..7787770hg19UCSC Ensembl
Innerchr8:7789446..7825180hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3835735
hg1935735
hg1835735
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6974n100
Supporting Variantsnssv3681028, nssv3681029
Samples
Known GenesDEFB4A, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020139
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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