A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv434n27



Internal ID22767163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54227805..54258559hg38UCSC Ensembl
chr19:54731679..54762408hg19UCSC Ensembl
chr19:59423491..59454220hg18UCSC Ensembl
chr19:59423491..59454220hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3830755
hg1930730
hg1830730
hg1730730
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv458791, nsv458790, nsv458792
Samples1780854264_A, HGDP00206, NINDS_73
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)dgv434n27
Frequency
Sample Size1557
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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