A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605980



Internal ID16393389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:4836426..4963742hg38UCSC Ensembl
Innerchr7:4876057..5003373hg19UCSC Ensembl
Innerchr7:4842583..4969899hg18UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38127317
hg19127317
hg18127317
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1078808
Samples
Known GenesMMD2, PAPOLB, RADIL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv605980
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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