A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458627



Internal ID15518692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42870449..43141405hg38UCSC Ensembl
Innerchr19:43374601..43645557hg19UCSC Ensembl
Innerchr19:48066441..48337397hg18UCSC Ensembl
Innerchr19:48066441..48337397hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38270957
hg19270957
hg18270957
hg17270957
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv416n27
Supporting Variantsnssv535539
SamplesHGDP01378
Known GenesPSG1, PSG11, PSG2, PSG6, PSG7
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)nsv458627
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer