A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556456



Internal ID15997179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:117188631..117250282hg38UCSC Ensembl
Innerchr11:117059347..117120998hg19UCSC Ensembl
Innerchr11:116564557..116626208hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3861652
hg1961652
hg1861652
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2186n54
Supporting Variantsnssv784601
Samples
Known GenesLOC100652768, PCSK7, RNF214, SIDT2, TAGLN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556456
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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