A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462511



Internal ID15522576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:167848082..167897804hg38UCSC Ensembl
Innerchr5:167275087..167324809hg19UCSC Ensembl
Innerchr5:167207665..167257387hg18UCSC Ensembl
Innerchr5:167207665..167257387hg17UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3849723
hg1949723
hg1849723
hg1749723
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538657
SamplesHGDP00708
Known GenesTENM2
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)nsv462511
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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