A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv573717



Internal ID16014440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:88805500..88809520hg38UCSC Ensembl
Innerchr16:88871908..88875928hg19UCSC Ensembl
Innerchr16:87399409..87403429hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg384021
hg194021
hg184021
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5319n54
Supporting Variantsnssv863301
Samples
Known GenesAPRT, CDT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv573717
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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