A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535698



Internal ID15510321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54618453..54666478hg38UCSC Ensembl
Innerchr19:55129905..55177929hg19UCSC Ensembl
Innerchr19:59821717..59869741hg18UCSC Ensembl
Innerchr19:59821717..59869741hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3848026
hg1948025
hg1848025
hg1748025
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458799
Supporting Variants
SamplesHGDP01229
Known GenesLILRB1, LILRB4, 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)nssv535698
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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