A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3528542



Internal ID22397930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101362525..101363179hg38UCSC Ensembl
chr12:101756303..101756957hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38655
hg19655
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14365486, nssv14365489, nssv14365487, nssv14365488
SamplesHG00512, NA19238, NA19239, NA19240
Known GenesUTP20
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3528542
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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