A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535692



Internal ID15502271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54227805..54255708hg38UCSC Ensembl
Innerchr19:54731679..54759571hg19UCSC Ensembl
Innerchr19:59423491..59451383hg18UCSC Ensembl
Innerchr19:59423491..59451383hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3827904
hg1927893
hg1827893
hg1727893
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458791
Supporting Variants
Samples1780854264_A
Known GenesLILRA6, LILRB5
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)nssv535692
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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