A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468897



Internal ID15528962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:131055122..131100648hg38UCSC Ensembl
Innerchr11:130925017..130970543hg19UCSC Ensembl
Innerchr11:130430227..130475753hg18UCSC Ensembl
Innerchr11:130430227..130475753hg17UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3845527
hg1945527
hg1845527
hg1745527
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543947
Samples1780862433_A
Known Genes
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)nsv468897
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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