A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204053



Internal ID22352966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:238587808..238596158hg38UCSC Ensembl
Outerchr2:239496449..239504799hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg388351
hg198351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265422
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204053
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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