A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558968



Internal ID16346377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52970449..52984790hg38UCSC Ensembl
Innerchr12:53364233..53378574hg19UCSC Ensembl
Innerchr12:51650500..51664841hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3814342
hg1914342
hg1814342
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv796173
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558968
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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