A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215696



Internal ID22361938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:161427334..161441931hg38UCSC Ensembl
Outerchr1:161397124..161411721hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3882323
hg1982323
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269162, nssv14269164, nssv14269161, nssv14269163, nssv14269166, nssv14269165
SamplesHG00512, NA19239, HG00732, NA19240, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215696
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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