A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556149



Internal ID16343558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:102434573..102436612hg38UCSC Ensembl
Innerchr11:102305304..102307343hg19UCSC Ensembl
Innerchr11:101810514..101812553hg18UCSC Ensembl
Cytoband11q22.2
Allele length
AssemblyAllele length
hg382040
hg192040
hg182040
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2135n54
Supporting Variantsnssv782022, nssv782018, nssv782025, nssv782021, nssv782019, nssv782020, nssv782023, nssv782017, nssv782024
Samples
Known GenesTMEM123
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556149
Frequency
Sample Size17421
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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