A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv573430



Internal ID16014153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:84387654..84501190hg38UCSC Ensembl
Innerchr16:84421260..84534796hg19UCSC Ensembl
Innerchr16:82978761..83092297hg18UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38113537
hg19113537
hg18113537
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149336
SamplesHGDP00805
Known GenesATP2C2, TLDC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv573430
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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