A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571198



Internal ID16011921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:2141733..2246850hg38UCSC Ensembl
Innerchr16:2191734..2296851hg19UCSC Ensembl
Innerchr16:2131735..2236852hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38105118
hg19105118
hg18105118
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4863n54
Supporting Variantsnssv852090
Samples
Known GenesBRICD5, CASKIN1, DNASE1L2, E4F1, ECI1, MLST8, PGP, RAB26, SNORD60, TRAF7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571198
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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