A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024494



Internal ID18767026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7894514..7930199hg38UCSC Ensembl
Innerchr8:7752036..7787721hg19UCSC Ensembl
Innerchr8:7789446..7825131hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3835686
hg1935686
hg1835686
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6974n100
Supporting Variantsnssv3681023, nssv3681025, nssv3681027, nssv3681024, nssv3681022, nssv3681026
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)nsv1024494
Frequency
Sample Size29084
Observed Gain2
Observed Loss4
Observed Complex0
Frequencyn/a


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