A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457598



Internal ID15170977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:84367244..84435705hg38UCSC Ensembl
Innerchr16:84400850..84469311hg19UCSC Ensembl
Innerchr16:82958351..83026812hg18UCSC Ensembl
Innerchr16:82958351..83026812hg17UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg3868462
hg1968462
hg1868462
hg1768462
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534748
SamplesHGDP00033
Known GenesATP2C2
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)nsv457598
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