A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538409



Internal ID15505763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:52085511..52131895hg38UCSC Ensembl
Innerchr5:51381345..51427729hg19UCSC Ensembl
Innerchr5:51417102..51463486hg18UCSC Ensembl
Innerchr5:51417102..51463486hg17UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3846385
hg1946385
hg1846385
hg1746385
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462186
Supporting Variants
SamplesHGDP00210
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)nssv538409
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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