A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023144



Internal ID18765677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7894514..7930334hg38UCSC Ensembl
Innerchr8:7752036..7787856hg19UCSC Ensembl
Innerchr8:7789446..7825266hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3835821
hg1935821
hg1835821
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6974n100
Supporting Variantsnssv3753725, nssv3753724
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)nsv1023144
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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