A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467413



Internal ID15180792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:86658778..86682683hg38UCSC Ensembl
Innerchr10:88418535..88442440hg19UCSC Ensembl
Innerchr10:88408515..88432420hg18UCSC Ensembl
Innerchr10:88408515..88432420hg17UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg3823906
hg1923906
hg1823906
hg1723906
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv116n27
Supporting Variantsnssv542715
SamplesHGDP00546
Known GenesLDB3, OPN4
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)nsv467413
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