A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030002



Internal ID18772533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12879480..13045752hg38UCSC Ensembl
Innerchr8:12736989..12903261hg19UCSC Ensembl
Innerchr8:12781360..12947632hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38166273
hg19166273
hg18166273
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3760196
Samples
Known GenesKIAA1456
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030002
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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