A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538668



Internal ID15507310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172652886..172744267hg38UCSC Ensembl
Innerchr5:172079889..172171270hg19UCSC Ensembl
Innerchr5:172012494..172103875hg18UCSC Ensembl
Innerchr5:172012494..172103875hg17UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3891382
hg1991382
hg1891382
hg1791382
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462527
Supporting Variants
SamplesHGDP00642
Known GenesNEURL1B
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)nssv538668
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