A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596999



Internal ID16384408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:7417608..7466630hg38UCSC Ensembl
Innerchr5:7417721..7466743hg19UCSC Ensembl
Innerchr5:7470721..7519743hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3849023
hg1949023
hg1849023
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9564n54
Supporting Variantsnssv1023840, nssv1023842, nssv1023841
Samples
Known GenesADCY2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596999
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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