A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv416n27



Internal ID22767145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42870449..43191688hg38UCSC Ensembl
chr19:43374601..43695840hg19UCSC Ensembl
chr19:48066441..48387680hg18UCSC Ensembl
chr19:48066441..48387680hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38321240
hg19321240
hg18321240
hg17321240
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv458633, nsv458634, nsv458630, nsv458631, nsv458646, nsv458638, nsv458627, nsv458645, nsv458644, nsv458643, nsv458632, nsv458628, nsv458647
SamplesNINDS_13, HGDP00323, 1780854522_A, HGDP01378, HGDP01264, 1780854103_A, HGDP01246, 1780854419_A, HGDP00736, HGDP00319, 1780862457_A, HGDP01282, NINDS_101
Known GenesPSG1, PSG11, PSG2, PSG5, PSG6, PSG7
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)dgv416n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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