A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458676



Internal ID15518741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42960729..43133031hg38UCSC Ensembl
Innerchr19:43464881..43637183hg19UCSC Ensembl
Innerchr19:48156721..48329023hg18UCSC Ensembl
Innerchr19:48156721..48329023hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38172303
hg19172303
hg18172303
hg17172303
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv419n27
Supporting Variantsnssv535588
SamplesHGDP00112
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)nsv458676
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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