A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533687



Internal ID15508698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:83100076..84904751hg38UCSC Ensembl
Innerchr14:83566420..85371095hg19UCSC Ensembl
Innerchr14:82636173..84440848hg18UCSC Ensembl
Innerchr14:82636173..84440848hg17UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg381804676
hg191804676
hg181804676
hg171804676
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456350
Supporting Variants
SamplesHGDP00885
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)nssv533687
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer