A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555254



Internal ID15995977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67397024..67521123hg38UCSC Ensembl
Innerchr11:67164495..67288594hg19UCSC Ensembl
Innerchr11:66921071..67045170hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38124100
hg19124100
hg18124100
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1977n54
Supporting Variantsnssv778566
Samples
Known GenesAIP, CABP2, CABP4, CARNS1, CDK2AP2, CORO1B, GPR152, MIR6752, PITPNM1, PPP1CA, PTPRCAP, RAD9A, RPS6KB2, TBC1D10C, TMEM134
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv555254
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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