A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1175754



Internal ID15526881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:125778321..125896149hg38UCSC Ensembl
Innerchr11:125648216..125766044hg19UCSC Ensembl
Innerchr11:125153426..125271254hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38117829
hg19117829
hg18117829
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv556526
Supporting Variants
SamplesHGDP00243
Known GenesHYLS1, PATE2, PATE3, PATE4, PUS3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1175754
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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