A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606715



Internal ID16047438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:42169735..42940343hg38UCSC Ensembl
Innerchr7:42209334..42979942hg19UCSC Ensembl
Innerchr7:42175859..42946467hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38770609
hg19770609
hg18770609
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1083050
Samples
Known GenesC7orf25, GLI3, MRPL32, PSMA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606715
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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