A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576479



Internal ID16017202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:10814336..10863851hg38UCSC Ensembl
Innerchr18:10814334..10863849hg19UCSC Ensembl
Innerchr18:10804334..10853849hg18UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg3849516
hg1949516
hg1849516
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150591
SamplesHGDP00696
Known GenesPIEZO2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576479
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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