A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456214



Internal ID15516279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:40441476..40460102hg38UCSC Ensembl
Innerchr14:40910680..40929306hg19UCSC Ensembl
Innerchr14:39980430..39999056hg18UCSC Ensembl
Innerchr14:39980430..39999056hg17UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3818627
hg1918627
hg1818627
hg1718627
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv245n27
Supporting Variantsnssv533579
SamplesHGDP00828
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)nsv456214
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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