A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533762



Internal ID15508789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104325917..104485807hg38UCSC Ensembl
Innerchr14:104792254..104952144hg19UCSC Ensembl
Innerchr14:103863299..104023189hg18UCSC Ensembl
Innerchr14:103863299..104023189hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38159891
hg19159891
hg18159891
hg17159891
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456444
Supporting Variants
SamplesHGDP00899
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)nssv533762
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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