A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555299



Internal ID15996022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:69002565..69053408hg38UCSC Ensembl
Innerchr11:68770033..68820876hg19UCSC Ensembl
Innerchr11:68526609..68577452hg18UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg3850844
hg1950844
hg1850844
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174818
SamplesNINDS_54
Known GenesMRGPRF, TPCN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv555299
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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