A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458679



Internal ID15518744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42964508..43133031hg38UCSC Ensembl
Innerchr19:43468660..43637183hg19UCSC Ensembl
Innerchr19:48160500..48329023hg18UCSC Ensembl
Innerchr19:48160500..48329023hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38168524
hg19168524
hg18168524
hg17168524
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv417n27
Supporting Variantsnssv535591
SamplesHGDP01366
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)nsv458679
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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