A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv463239



Internal ID15523304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:110916672..110942585hg38UCSC Ensembl
Innerchr1:111459294..111485207hg19UCSC Ensembl
Innerchr1:111260817..111286730hg18UCSC Ensembl
Innerchr1:111171336..111197249hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3825914
hg1925914
hg1825914
hg1725914
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv539262
SamplesHGDP00003
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)nsv463239
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