A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005823



Internal ID19095040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:66987479..67068345hg38UCSC Ensembl
Innerchr3:67037903..67118769hg19UCSC Ensembl
Innerchr3:67120593..67201459hg18UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3880867
hg1980867
hg1880867
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3593966
Samples
Known GenesKBTBD8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005823
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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