A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571199



Internal ID16011922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:2156590..2274302hg38UCSC Ensembl
Innerchr16:2206591..2324303hg19UCSC Ensembl
Innerchr16:2146592..2264304hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38117713
hg19117713
hg18117713
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4863n54
Supporting Variantsnssv1148902
Samples1780862347_A
Known GenesBRICD5, CASKIN1, DNASE1L2, E4F1, ECI1, MIR3677, MIR940, MLST8, PGP, RNPS1, TRAF7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571199
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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