A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555186



Internal ID15995909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:64181623..64329761hg38UCSC Ensembl
Innerchr11:63949095..64097233hg19UCSC Ensembl
Innerchr11:63705671..63853809hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38148139
hg19148139
hg18148139
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1963n54
Supporting Variantsnssv1174808
Samples1780862275_A
Known GenesBAD, DNAJC4, ESRRA, FERMT3, FKBP2, GPR137, KCNK4, NUDT22, PLCB3, PPP1R14B, PRDX5, STIP1, TEX40, TRMT112, TRPT1, VEGFB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv555186
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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