A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462162



Internal ID15522227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50693867..50744944hg38UCSC Ensembl
Innerchr5:49989701..50040778hg19UCSC Ensembl
Innerchr5:50025458..50076535hg18UCSC Ensembl
Innerchr5:50025458..50076535hg17UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg3851078
hg1951078
hg1851078
hg1751078
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv702n27
Supporting Variantsnssv538397
SamplesHGDP00771
Known GenesPARP8
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)nsv462162
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