A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462530



Internal ID15522595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172664147..172739624hg38UCSC Ensembl
Innerchr5:172091150..172166627hg19UCSC Ensembl
Innerchr5:172023755..172099232hg18UCSC Ensembl
Innerchr5:172023755..172099232hg17UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3875478
hg1975478
hg1875478
hg1775478
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv729n27
Supporting Variantsnssv538670
SamplesHGDP01259
Known GenesNEURL1B
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)nsv462530
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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