A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535572



Internal ID15506926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42954411..43125421hg38UCSC Ensembl
Innerchr19:43458563..43629573hg19UCSC Ensembl
Innerchr19:48150403..48321413hg18UCSC Ensembl
Innerchr19:48150403..48321413hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38171011
hg19171011
hg18171011
hg17171011
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458660
Supporting Variants
SamplesHGDP00577
Known GenesPSG11, PSG2
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)nssv535572
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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