A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv603163



Internal ID16390572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:55373293..55504017hg38UCSC Ensembl
Innerchr6:55238091..55368815hg19UCSC Ensembl
Innerchr6:55346050..55476774hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38130725
hg19130725
hg18130725
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1154085
SamplesHGDP00942
Known GenesGFRAL, HMGCLL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv603163
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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