A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462312



Internal ID15522377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:99134197..99152557hg38UCSC Ensembl
Innerchr5:98469901..98488261hg19UCSC Ensembl
Innerchr5:98497801..98516161hg18UCSC Ensembl
Innerchr5:98497801..98516161hg17UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3818361
hg1918361
hg1818361
hg1718361
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538516
SamplesHGDP00239
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)nsv462312
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