A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462501



Internal ID15522566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:162026079..162059049hg38UCSC Ensembl
Innerchr5:161453085..161486055hg19UCSC Ensembl
Innerchr5:161385663..161418633hg18UCSC Ensembl
Innerchr5:161385663..161418633hg17UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3832971
hg1932971
hg1832971
hg1732971
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538651
SamplesHGDP00741
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)nsv462501
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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