A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3528197



Internal ID22397582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57873385..57873439hg38UCSC Ensembl
chr12:58267168..58267222hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14364241, nssv14364242
SamplesNA19239, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3528197
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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