A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606709



Internal ID16394118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:40055042..40157569hg38UCSC Ensembl
Innerchr7:40094641..40197168hg19UCSC Ensembl
Innerchr7:40061166..40163693hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38102528
hg19102528
hg18102528
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1155847
SamplesHGDP00778
Known GenesC7orf10, CDK13, MPLKIP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606709
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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