A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468862



Internal ID15182241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:104903287..105372644hg38UCSC Ensembl
Innerchr11:104774014..105243371hg19UCSC Ensembl
Innerchr11:104279224..104748581hg18UCSC Ensembl
Innerchr11:104279224..104748581hg17UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38469358
hg19469358
hg18469358
hg17469358
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543924
Samples1780862563_A
Known GenesCARD16, CARD17, CARD18, CASP1, CASP4, CASP5, LOC643733
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)nsv468862
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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