A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198265



Internal ID22348011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:101224469..101258202hg38UCSC Ensembl
Outerchr1:101690025..101723758hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg3833734
hg1933734
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264644, nssv14264645, nssv14264643
SamplesNA19238, HG00732, HG00513
Known GenesLOC101928370, S1PR1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198265
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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