A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555270



Internal ID15995993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67605006..67656421hg38UCSC Ensembl
Innerchr11:67372477..67423892hg19UCSC Ensembl
Innerchr11:67129053..67180468hg18UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg3851416
hg1951416
hg1851416
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1982n54
Supporting Variantsnssv1174812
Samples1780862003_A
Known GenesACY3, DOC2GP, NDUFV1, NUDT8, TBX10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv555270
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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