A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031934



Internal ID18774468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7952357..8132760hg38UCSC Ensembl
Innerchr8:7809879..7990282hg19UCSC Ensembl
Innerchr8:7847289..8027692hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38180404
hg19180404
hg18180404
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6976n100
Supporting Variantsnssv3753808
Samples
Known GenesDEFB109P1B, FAM66E, MIR548I3, USP17L3, USP17L8, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1031934
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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