A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456223



Internal ID15516288
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533587
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)nsv456223
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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