A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455706



Internal ID15515771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:107986225..108095158hg38UCSC Ensembl
Innerchr12:108380002..108488935hg19UCSC Ensembl
Innerchr12:106904132..107013065hg18UCSC Ensembl
Innerchr12:106882469..106991402hg17UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38108934
hg19108934
hg18108934
hg17108934
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv211n27
Supporting Variantsnssv533210
Samples1780862095_A
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)nsv455706
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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