A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457460



Internal ID15170839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21654995..21728953hg38UCSC Ensembl
Innerchr16:21666316..21740274hg19UCSC Ensembl
Innerchr16:21573817..21647775hg18UCSC Ensembl
Innerchr16:21573817..21647775hg17UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg3873959
hg1973959
hg1873959
hg1773959
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534645
SamplesHGDP00700
Known GenesMETTL9, OTOA
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)nsv457460
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