A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467755



Internal ID15181134
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542947
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)nsv467755
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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