A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030934



Internal ID18773466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:10207659..10703651hg38UCSC Ensembl
Innerchr8:10065169..10561161hg19UCSC Ensembl
Innerchr8:10102579..10598571hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38495993
hg19495993
hg18495993
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3681714
Samples
Known GenesC8orf74, MIR4286, MSRA, PRSS55, RP1L1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030934
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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