A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459914



Internal ID15519979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:48701519..48719868hg38UCSC Ensembl
Innerchr22:49097331..49115680hg19UCSC Ensembl
Innerchr22:47483337..47501686hg18UCSC Ensembl
Innerchr22:47418194..47436543hg17UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg3818350
hg1918350
hg1818350
hg1718350
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536569
SamplesNINDS_182
Known GenesFAM19A5
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)nsv459914
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