A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458321



Internal ID15171700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:797079..850574hg38UCSC Ensembl
Innerchr19:797079..850574hg19UCSC Ensembl
Innerchr19:748079..801574hg18UCSC Ensembl
Innerchr19:748079..801574hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3853496
hg1953496
hg1853496
hg1753496
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535274
Samples1780862100_A
Known GenesAZU1, LPPR3, MIR3187, MIR4745, PRTN3, PTBP1
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)nsv458321
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