A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458798



Internal ID15172177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54519416..54645591hg38UCSC Ensembl
Innerchr19:55030599..55157042hg19UCSC Ensembl
Innerchr19:59722411..59848854hg18UCSC Ensembl
Innerchr19:59722411..59848854hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38126176
hg19126444
hg18126444
hg17126444
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv435n27
Supporting Variantsnssv535697
SamplesHGDP01242
Known GenesKIR3DX1, LILRA1, LILRA2, LILRB1, MIR8061
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)nsv458798
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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