A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462241



Internal ID15522306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:85068399..85113413hg38UCSC Ensembl
Innerchr5:84364217..84409231hg19UCSC Ensembl
Innerchr5:84399973..84444987hg18UCSC Ensembl
Innerchr5:84399973..84444987hg17UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3845015
hg1945015
hg1845015
hg1745015
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538454
SamplesHGDP00634
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)nsv462241
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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