A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020047



Internal ID18762582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:106149953..106464172hg38UCSC Ensembl
Innerchr6:106597828..106912047hg19UCSC Ensembl
Innerchr6:106704521..107018740hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38314220
hg19314220
hg18314220
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6134n100
Supporting Variantsnssv3654277
Samples
Known GenesATG5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020047
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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