A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605700



Internal ID16046423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:886440..1065790hg38UCSC Ensembl
Innerchr7:926077..1105426hg19UCSC Ensembl
Innerchr7:892603..1071952hg18UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38179351
hg19179350
hg18179350
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1155843
Samples1798860071_A
Known GenesADAP1, C7orf50, COX19, CYP2W1, GET4, GPR146, MIR339
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv605700
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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