A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571194



Internal ID16011917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:2095786..2213145hg38UCSC Ensembl
Innerchr16:2145787..2263146hg19UCSC Ensembl
Innerchr16:2085788..2203147hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38117360
hg19117360
hg18117360
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4861n54
Supporting Variantsnssv852085, nssv852086
Samples
Known GenesBRICD5, CASKIN1, MIR3180-5, MIR4516, MIR6511B-1, MLST8, PGP, PKD1, RAB26, SNORD60, TRAF7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571194
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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