A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469451



Internal ID15529516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:63658097..63724778hg38UCSC Ensembl
Innerchr12:64051877..64118558hg19UCSC Ensembl
Innerchr12:62338144..62404825hg18UCSC Ensembl
Innerchr12:62338144..62404825hg17UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg3866682
hg1966682
hg1866682
hg1766682
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv204n27
Supporting Variantsnssv544315
SamplesNINDS_53
Known GenesDPY19L2
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)nsv469451
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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