A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555269



Internal ID15995992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67585218..68049469hg38UCSC Ensembl
Innerchr11:67352689..67816936hg19UCSC Ensembl
Innerchr11:67109265..67573512hg18UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38464252
hg19464248
hg18464248
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1981n54
Supporting Variantsnssv1174811
SamplesNINDS_4
Known GenesACY3, ALDH3B1, ALDH3B2, DOC2GP, FAM86C2P, GSTP1, MIR4691, MIR6753, MIR7113, NDUFS8, NDUFV1, NUDT8, TBX10, TCIRG1, UNC93B1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv555269
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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