A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211390



Internal ID22358964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:75942182..75942360hg38UCSC Ensembl
chr12:76335962..76336140hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38179
hg19179
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14362793, nssv14362794, nssv14362792
SamplesNA19238, NA19239, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211390
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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