A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542947



Internal ID15166328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:24385835..24506412hg38UCSC Ensembl
Innerchr11:24407381..24527958hg19UCSC Ensembl
Innerchr11:24363957..24484534hg18UCSC Ensembl
Innerchr11:24363957..24484534hg17UCSC Ensembl
Cytoband11p14.3
Allele length
AssemblyAllele length
hg38120578
hg19120578
hg18120578
hg17120578
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467755
Supporting Variants
SamplesNINDS_94
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)nssv542947
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