A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv438n27



Internal ID20132696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54790359..54881299hg38UCSC Ensembl
chr19:55301811..55392755hg19UCSC Ensembl
chr19:59993623..60084567hg18UCSC Ensembl
chr19:59993623..60084567hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3890941
hg1990945
hg1890945
hg1790945
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv458826, nsv458811
SamplesNINDS_237, NINDS_114
Known GenesFCAR, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, LOC100287534
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)dgv438n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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