A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467758



Internal ID15527823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:24947682..25039801hg38UCSC Ensembl
Innerchr11:24969228..25061347hg19UCSC Ensembl
Innerchr11:24925804..25017923hg18UCSC Ensembl
Innerchr11:24925804..25017923hg17UCSC Ensembl
Cytoband11p14.3
Allele length
AssemblyAllele length
hg3892120
hg1992120
hg1892120
hg1792120
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542950
Samples1780854464_A
Known GenesLUZP2
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)nsv467758
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