A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462391



Internal ID15522456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:113799037..113848514hg38UCSC Ensembl
Innerchr5:113134734..113184211hg19UCSC Ensembl
Innerchr5:113162633..113212110hg18UCSC Ensembl
Innerchr5:113162633..113212110hg17UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3849478
hg1949478
hg1849478
hg1749478
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538566
SamplesHGDP00808
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)nsv462391
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer