A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210025



Internal ID22358010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:15812459..15832827hg38UCSC Ensembl
Outerchr1:16138954..16159322hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3820369
hg1920369
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255159, nssv14255157, nssv14255160, nssv14255158
SamplesNA19238, HG00732, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210025
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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