A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556134



Internal ID16343543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:101527719..101565958hg38UCSC Ensembl
Innerchr11:101398450..101436689hg19UCSC Ensembl
Innerchr11:100903660..100941899hg18UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg3838240
hg1938240
hg1838240
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2132n54
Supporting Variantsnssv781997, nssv781998
Samples
Known GenesTRPC6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556134
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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