A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223138



Internal ID22366996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56665128..56669862hg38UCSC Ensembl
chr16:56699040..56703774hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg384735
hg194735
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14381907
SamplesNA19239
Known GenesMT1G, MT1H
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223138
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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