A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468603



Internal ID15181982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67265605..67397024hg38UCSC Ensembl
Innerchr11:67033076..67164495hg19UCSC Ensembl
Innerchr11:66789652..66921071hg18UCSC Ensembl
Innerchr11:66789652..66921071hg17UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38131420
hg19131420
hg18131420
hg17131420
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543706
Samples1798860210_A
Known GenesADRBK1, ANKRD13D, CLCF1, LOC100130987, POLD4, RAD9A, SSH3
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)nsv468603
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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