A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559763



Internal ID16000486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:92737427..92897826hg38UCSC Ensembl
Innerchr12:93131203..93291602hg19UCSC Ensembl
Innerchr12:91655334..91815733hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38160400
hg19160400
hg18160400
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2787n54
Supporting Variantsnssv1175736
Samples1780854090_A
Known GenesEEA1, PLEKHG7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559763
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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