A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv248n27



Internal ID22766977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:43337104..43778538hg38UCSC Ensembl
chr14:43806307..44247741hg19UCSC Ensembl
chr14:42876057..43317491hg18UCSC Ensembl
chr14:42876057..43317491hg17UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38441435
hg19441435
hg18441435
hg17441435
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv456247, nsv456246, nsv456245, nsv456244
SamplesNINDS_9, 1780862300_A, 1780854533_A, HGDP01172
Known Genes
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)dgv248n27
Frequency
Sample Size1557
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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