A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458797



Internal ID15172176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54519000..54641641hg38UCSC Ensembl
Innerchr19:55030183..55153092hg19UCSC Ensembl
Innerchr19:59721995..59844904hg18UCSC Ensembl
Innerchr19:59721995..59844904hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38122642
hg19122910
hg18122910
hg17122910
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv435n27
Supporting Variantsnssv535696
SamplesHGDP00957
Known GenesKIR3DX1, LILRA1, LILRA2, LILRB1
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)nsv458797
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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