A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558720



Internal ID16346129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:42626831..42643877hg38UCSC Ensembl
Innerchr12:43020633..43037679hg19UCSC Ensembl
Innerchr12:41306900..41323946hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3817047
hg1917047
hg1817047
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv794238
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558720
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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