A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264644



Internal ID22203031
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198265
Supporting Variants
SamplesHG00732
Known GenesLOC101928370, S1PR1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264644
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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