A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv852078



Internal ID15799348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1971892..2246850hg38UCSC Ensembl
Innerchr16:2021893..2296851hg19UCSC Ensembl
Innerchr16:1961894..2236852hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38274959
hg19274959
hg18274959
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv571185
Supporting Variants
Samples
Known GenesBRICD5, CASKIN1, DNASE1L2, E4F1, ECI1, GFER, MIR1225, MIR3180-5, MIR4516, MIR6511B-1, MLST8, NOXO1, NPW, NTHL1, PGP, PKD1, RAB26, SLC9A3R2, SNORD60, SYNGR3, TBL3, TRAF7, TSC2, ZNF598
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv852078
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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