A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469174



Internal ID15529239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:24976081..25004195hg38UCSC Ensembl
Innerchr12:25129015..25157129hg19UCSC Ensembl
Innerchr12:25020282..25048396hg18UCSC Ensembl
Innerchr12:25020282..25048396hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3828115
hg1928115
hg1828115
hg1728115
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544136
Samples1780854339_A
Known GenesC12orf77
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)nsv469174
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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