A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467710



Internal ID15181089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:16197795..16245194hg38UCSC Ensembl
Innerchr11:16219341..16266740hg19UCSC Ensembl
Innerchr11:16175917..16223316hg18UCSC Ensembl
Innerchr11:16175917..16223316hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3847400
hg1947400
hg1847400
hg1747400
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542916
Samples1780862001_A
Known GenesSOX6
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)nsv467710
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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