A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455739



Internal ID15169118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:124499379..124520596hg38UCSC Ensembl
Innerchr12:124983925..125005142hg19UCSC Ensembl
Innerchr12:123549878..123571095hg18UCSC Ensembl
Innerchr12:123508805..123530022hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3821218
hg1921218
hg1821218
hg1721218
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533231
SamplesHGDP00438
Known GenesNCOR2
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)nsv455739
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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