A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468888



Internal ID15182267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:125778321..125896149hg38UCSC Ensembl
Innerchr11:125648216..125766044hg19UCSC Ensembl
Innerchr11:125153426..125271254hg18UCSC Ensembl
Innerchr11:125153426..125271254hg17UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38117829
hg19117829
hg18117829
hg17117829
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543941
SamplesHGDP00243
Known GenesHYLS1, PATE2, PATE3, PATE4, PUS3
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv468888
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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