A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455804



Internal ID15169183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131842314..131934988hg38UCSC Ensembl
Innerchr12:132326859..132419533hg19UCSC Ensembl
Innerchr12:130892812..130985486hg18UCSC Ensembl
Innerchr12:130993089..131085763hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3892675
hg1992675
hg1892675
hg1792675
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533280
Samples1780862021_A
Known GenesMMP17, PUS1, ULK1
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)nsv455804
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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