A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456244



Internal ID15516309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:43337104..43778538hg38UCSC Ensembl
Innerchr14:43806307..44247741hg19UCSC Ensembl
Innerchr14:42876057..43317491hg18UCSC Ensembl
Innerchr14:42876057..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 Variantsdgv248n27
Supporting Variantsnssv533601
SamplesHGDP01172
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)nsv456244
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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