A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543860



Internal ID15159822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:85977166..86040841hg38UCSC Ensembl
Innerchr11:85688209..85751883hg19UCSC Ensembl
Innerchr11:85365857..85429531hg18UCSC Ensembl
Innerchr11:85365857..85429531hg17UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg3863676
hg1963675
hg1863675
hg1763675
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468770
Supporting Variants
SamplesHGDP00517
Known GenesPICALM
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)nssv543860
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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