A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555256



Internal ID15995979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67418529..67516420hg38UCSC Ensembl
Innerchr11:67186000..67283891hg19UCSC Ensembl
Innerchr11:66942576..67040467hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg3897892
hg1997892
hg1897892
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1977n54
Supporting Variantsnssv1174660
SamplesNINDS_173
Known GenesAIP, CABP4, CARNS1, CDK2AP2, CORO1B, GPR152, MIR6752, PITPNM1, PTPRCAP, RPS6KB2, TMEM134
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv555256
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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