A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542870



Internal ID15165255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:2289922..2301432hg38UCSC Ensembl
Innerchr11:2311152..2322662hg19UCSC Ensembl
Innerchr11:2267728..2279238hg18UCSC Ensembl
Innerchr11:2267728..2279238hg17UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3811511
hg1911511
hg1811511
hg1711511
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467651
Supporting Variants
SamplesNINDS_173
Known GenesC11orf21
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)nssv542870
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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