A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600340



Internal ID16387749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176132836..176303804hg38UCSC Ensembl
Innerchr5:175559839..175730807hg19UCSC Ensembl
Innerchr5:175492445..175663413hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38170969
hg19170969
hg18170969
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1154717
Samples1780854599_A
Known GenesLOC643201, SIMC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600340
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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