A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538453



Internal ID15508196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:84994664..86364007hg38UCSC Ensembl
Innerchr5:84290482..85659825hg19UCSC Ensembl
Innerchr5:84326238..85695581hg18UCSC Ensembl
Innerchr5:84326238..85695581hg17UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg381369344
hg191369344
hg181369344
hg171369344
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462240
Supporting Variants
SamplesHGDP00781
Known GenesNBPF22P
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)nssv538453
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