A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv577970



Internal ID16018693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:80138359..80217100hg38UCSC Ensembl
Innerchr18:77896242..77974983hg19UCSC Ensembl
Innerchr18:75997233..76075974hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3878742
hg1978742
hg1878742
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150335
SamplesHGDP00752
Known GenesADNP2, PARD6G, PARD6G-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv577970
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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