A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597001



Internal ID16037724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:7417862..7497670hg38UCSC Ensembl
Innerchr5:7417975..7497783hg19UCSC Ensembl
Innerchr5:7470975..7550783hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3879809
hg1979809
hg1879809
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1023844
Samples
Known GenesADCY2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597001
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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