A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605978



Internal ID16393387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:4788446..4814961hg38UCSC Ensembl
Innerchr7:4828077..4854592hg19UCSC Ensembl
Innerchr7:4794603..4821118hg18UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3826516
hg1926516
hg1826516
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1078806
Samples
Known GenesAP5Z1, MIR4656, RADIL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv605978
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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