A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458418



Internal ID15518483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:80034044..80062083hg38UCSC Ensembl
Innerchr2:80261170..80289209hg19UCSC Ensembl
Innerchr2:80114681..80142720hg18UCSC Ensembl
Innerchr2:80172828..80200867hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3828040
hg1928040
hg1828040
hg1728040
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535352
SamplesNINDS_54
Known GenesCTNNA2
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)nsv458418
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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