A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542936



Internal ID15511487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:23282087..23384959hg38UCSC Ensembl
Innerchr11:23303633..23406505hg19UCSC Ensembl
Innerchr11:23260209..23363081hg18UCSC Ensembl
Innerchr11:23260209..23363081hg17UCSC Ensembl
Cytoband11p14.3
Allele length
AssemblyAllele length
hg38102873
hg19102873
hg18102873
hg17102873
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467735
Supporting Variants
SamplesNINDS_103
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)nssv542936
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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