A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462127



Internal ID15175506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:44803647..44834131hg38UCSC Ensembl
Innerchr5:44803749..44834233hg19UCSC Ensembl
Innerchr5:44839506..44869990hg18UCSC Ensembl
Innerchr5:44839506..44869990hg17UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3830485
hg1930485
hg1830485
hg1730485
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538374
SamplesHGDP00805
Known GenesMRPS30
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)nsv462127
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