A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458677



Internal ID15518742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42961664..43191688hg38UCSC Ensembl
Innerchr19:43465816..43695840hg19UCSC Ensembl
Innerchr19:48157656..48387680hg18UCSC Ensembl
Innerchr19:48157656..48387680hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38230025
hg19230025
hg18230025
hg17230025
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv417n27
Supporting Variantsnssv535589
SamplesHGDP01063
Known GenesPSG11, PSG2, PSG5
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)nsv458677
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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