A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv396n27



Internal ID20132654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8487389..8564616hg38UCSC Ensembl
chr19:8552273..8629500hg19UCSC Ensembl
chr19:8458273..8535500hg18UCSC Ensembl
chr19:8458273..8535500hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3877228
hg1977228
hg1877228
hg1777228
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv458354, nsv458351, nsv458353
Samples1780862300_A, 1780862306_A, 1780862415_A
Known GenesHNRNPM, MYO1F, PRAM1, ZNF414
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)dgv396n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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