A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462500



Internal ID15175879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:159884897..159921891hg38UCSC Ensembl
Innerchr5:159311904..159348898hg19UCSC Ensembl
Innerchr5:159244482..159281476hg18UCSC Ensembl
Innerchr5:159244482..159281476hg17UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3836995
hg1936995
hg1836995
hg1736995
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538650
Samples1780854479_A
Known GenesADRA1B
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)nsv462500
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