A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533587



Internal ID15505409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:40935888..41070570hg38UCSC Ensembl
Innerchr14:41405093..41539775hg19UCSC Ensembl
Innerchr14:40474843..40609525hg18UCSC Ensembl
Innerchr14:40474843..40609525hg17UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38134683
hg19134683
hg18134683
hg17134683
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456223
Supporting Variants
SamplesHGDP00127
Known GenesLOC644919
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)nssv533587
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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