A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462320



Internal ID15522385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:100911850..101439903hg38UCSC Ensembl
Innerchr5:100247554..100775607hg19UCSC Ensembl
Innerchr5:100275453..100803506hg18UCSC Ensembl
Innerchr5:100275453..100803506hg17UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38528054
hg19528054
hg18528054
hg17528054
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538522
SamplesHGDP01030
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)nsv462320
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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