A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468898



Internal ID15182277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:131743728..131779552hg38UCSC Ensembl
Innerchr11:131613622..131649446hg19UCSC Ensembl
Innerchr11:131118832..131154656hg18UCSC Ensembl
Innerchr11:131118832..131154656hg17UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3835825
hg1935825
hg1835825
hg1735825
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543948
Samples1780854295_A
Known GenesNTM
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)nsv468898
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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