A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028763



Internal ID18771294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:104756563..104944870hg38UCSC Ensembl
Innerchr6:105204438..105392745hg19UCSC Ensembl
Innerchr6:105311131..105499438hg18UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg38188308
hg19188308
hg18188308
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3654274
Samples
Known GenesHACE1, LINC00577
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028763
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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