A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597000



Internal ID16384409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:7417608..7478801hg38UCSC Ensembl
Innerchr5:7417721..7478914hg19UCSC Ensembl
Innerchr5:7470721..7531914hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3861194
hg1961194
hg1861194
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9564n54
Supporting Variantsnssv1023843
Samples
Known GenesADCY2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597000
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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