A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv544261



Internal ID15508915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:50399063..50462830hg38UCSC Ensembl
Innerchr12:50792846..50856613hg19UCSC Ensembl
Innerchr12:49079113..49142880hg18UCSC Ensembl
Innerchr12:49079113..49142880hg17UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3863768
hg1963768
hg1863768
hg1763768
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469376
Supporting Variants
SamplesHGDP00915
Known GenesLARP4
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)nssv544261
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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