A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543861



Internal ID15165111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:85977166..86046547hg38UCSC Ensembl
Innerchr11:85688209..85757589hg19UCSC Ensembl
Innerchr11:85365857..85435237hg18UCSC Ensembl
Innerchr11:85365857..85435237hg17UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg3869382
hg1969381
hg1869381
hg1769381
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468771
Supporting Variants
SamplesNINDS_147
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)nssv543861
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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