A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460283



Internal ID15520348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:4057494..4239667hg38UCSC Ensembl
Innerchr1:4117554..4299727hg19UCSC Ensembl
Innerchr1:4017414..4199587hg18UCSC Ensembl
Innerchr1:4027927..4210100hg17UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38182174
hg19182174
hg18182174
hg17182174
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536884
SamplesHGDP00817
Known Genes
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)nsv460283
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