A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543947



Internal ID15503828
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 Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468897
Supporting Variants
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)nssv543947
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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