A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv410n27



Internal ID22767139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42779968..43125421hg38UCSC Ensembl
chr19:43284120..43629573hg19UCSC Ensembl
chr19:47975960..48321413hg18UCSC Ensembl
chr19:47975960..48321413hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38345454
hg19345454
hg18345454
hg17345454
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv458592, nsv458626, nsv458589, nsv458625, nsv458588
SamplesNINDS_247, 1780862408_A, HGDP01329, 1780862334_A, 1780862057_A
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG2, 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)dgv410n27
Frequency
Sample Size1557
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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