A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462440



Internal ID15522505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:124534167..124584238hg38UCSC Ensembl
Innerchr5:123869860..123919931hg19UCSC Ensembl
Innerchr5:123897759..123947830hg18UCSC Ensembl
Innerchr5:123897759..123947830hg17UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3850072
hg1950072
hg1850072
hg1750072
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538605
Samples1782681195_A
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)nsv462440
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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