A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458653



Internal ID15518718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42934598..43089269hg38UCSC Ensembl
Innerchr19:43438750..43593421hg19UCSC Ensembl
Innerchr19:48130590..48285261hg18UCSC Ensembl
Innerchr19:48130590..48285261hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38154672
hg19154672
hg18154672
hg17154672
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535565
SamplesHGDP00330
Known GenesPSG11, PSG2, 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)nsv458653
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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