A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533594



Internal ID15510101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:42290902..42356909hg38UCSC Ensembl
Innerchr14:42760105..42826112hg19UCSC Ensembl
Innerchr14:41829855..41895862hg18UCSC Ensembl
Innerchr14:41829855..41895862hg17UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3866008
hg1966008
hg1866008
hg1766008
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456231
Supporting Variants
SamplesHGDP01188
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)nssv533594
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