A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455809



Internal ID15515874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132578397..132605822hg38UCSC Ensembl
Innerchr12:133154983..133182408hg19UCSC Ensembl
Innerchr12:131665056..131692481hg18UCSC Ensembl
Innerchr12:131765333..131792758hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3827426
hg1927426
hg1827426
hg1727426
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533285
Samples1780862093_A
Known GenesFBRSL1, LRCOL1, MIR6763
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)nsv455809
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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