A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468629



Internal ID15528694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:70230432..70247989hg38UCSC Ensembl
Innerchr11:70076538..70094095hg19UCSC Ensembl
Innerchr11:69754186..69771743hg18UCSC Ensembl
Innerchr11:69754186..69771743hg17UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg3817558
hg1917558
hg1817558
hg1717558
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv157n27
Supporting Variantsnssv543728
SamplesHGDP00017
Known Genes
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)nsv468629
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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