A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455726



Internal ID15169105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:119299977..119327860hg38UCSC Ensembl
Innerchr12:119737782..119765665hg19UCSC Ensembl
Innerchr12:118222165..118250048hg18UCSC Ensembl
Innerchr12:118200502..118228385hg17UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3827884
hg1927884
hg1827884
hg1727884
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533223
SamplesHGDP01378
Known GenesLINC00934
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)nsv455726
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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