A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458691



Internal ID15518756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43009507..43158934hg38UCSC Ensembl
Innerchr19:43513659..43663086hg19UCSC Ensembl
Innerchr19:48205499..48354926hg18UCSC Ensembl
Innerchr19:48205499..48354926hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38149428
hg19149428
hg18149428
hg17149428
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv420n27
Supporting Variantsnssv535603
SamplesHGDP01323
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)nsv458691
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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