A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv437n27



Internal ID20132695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54790359..54815284hg38UCSC Ensembl
chr19:55301811..55326739hg19UCSC Ensembl
chr19:59993623..60018551hg18UCSC Ensembl
chr19:59993623..60018551hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3824926
hg1924929
hg1824929
hg1724929
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv458808, nsv458805, nsv458801, nsv458802, nsv458804
SamplesNINDS_39, NINDS_158, NINDS_224, NINDS_218, NINDS_196
Known GenesKIR2DL4, 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)dgv437n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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