A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211142



Internal ID22358801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29495182..29501029hg38UCSC Ensembl
chr13:30069319..30075166hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg385848
hg195848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14367297
SamplesHG00731
Known GenesMTUS2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211142
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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