A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535540



Internal ID15510447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42870449..43155365hg38UCSC Ensembl
Innerchr19:43374601..43659517hg19UCSC Ensembl
Innerchr19:48066441..48351357hg18UCSC Ensembl
Innerchr19:48066441..48351357hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38284917
hg19284917
hg18284917
hg17284917
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458628
Supporting Variants
SamplesHGDP01246
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)nssv535540
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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