A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571201



Internal ID16011924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:2255538..2365929hg38UCSC Ensembl
Innerchr16:2305539..2415930hg19UCSC Ensembl
Innerchr16:2245540..2355931hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38110392
hg19110392
hg18110392
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1148903
Samples1782681114_A
Known GenesABCA17P, ABCA3, MIR3677, MIR4717, MIR940, RNPS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571201
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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