A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467757



Internal ID15527822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:24757415..24781515hg38UCSC Ensembl
Innerchr11:24778961..24803061hg19UCSC Ensembl
Innerchr11:24735537..24759637hg18UCSC Ensembl
Innerchr11:24735537..24759637hg17UCSC Ensembl
Cytoband11p14.3
Allele length
AssemblyAllele length
hg3824101
hg1924101
hg1824101
hg1724101
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542949
Samples1780862459_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)nsv467757
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