A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536592



Internal ID15161579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:3373165..3384566hg38UCSC Ensembl
Innerchr1:3289729..3301130hg19UCSC Ensembl
Innerchr1:3279589..3290990hg18UCSC Ensembl
Innerchr1:3312886..3324287hg17UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3811402
hg1911402
hg1811402
hg1711402
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459950
Supporting Variants
SamplesHGDP00788
Known GenesPRDM16
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)nssv536592
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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