A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538398



Internal ID15507462
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 Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462163
Supporting Variants
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)nssv538398
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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