A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198383



Internal ID22348112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:161275128..161280176hg38UCSC Ensembl
chr2:162131639..162136687hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg385049
hg195049
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14296613
SamplesHG00732
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198383
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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