A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462252



Internal ID15175631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:93222263..93260233hg38UCSC Ensembl
Innerchr5:92557969..92595939hg19UCSC Ensembl
Innerchr5:92583725..92621695hg18UCSC Ensembl
Innerchr5:92583725..92621695hg17UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3837971
hg1937971
hg1837971
hg1737971
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538463
SamplesHGDP00886
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)nsv462252
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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