A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533576



Internal ID15158776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:38222364..38283547hg38UCSC Ensembl
Innerchr14:38691569..38752752hg19UCSC Ensembl
Innerchr14:37761320..37822503hg18UCSC Ensembl
Innerchr14:37761320..37822503hg17UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3861184
hg1961184
hg1861184
hg1761184
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456210
Supporting Variants
SamplesHGDP00137
Known GenesCLEC14A
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)nssv533576
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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