A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571191



Internal ID16011914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:2083900..2224299hg38UCSC Ensembl
Innerchr16:2133901..2274300hg19UCSC Ensembl
Innerchr16:2073902..2214301hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38140400
hg19140400
hg18140400
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4861n54
Supporting Variantsnssv852082
Samples
Known GenesBRICD5, CASKIN1, E4F1, MIR1225, MIR3180-5, MIR4516, MIR6511B-1, MLST8, PGP, PKD1, RAB26, SNORD60, TRAF7, TSC2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571191
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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