A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462163



Internal ID15522228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50693867..50792483hg38UCSC Ensembl
Innerchr5:49989701..50088317hg19UCSC Ensembl
Innerchr5:50025458..50124074hg18UCSC Ensembl
Innerchr5:50025458..50124074hg17UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg3898617
hg1998617
hg1898617
hg1798617
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538398
SamplesHGDP00664
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)nsv462163
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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