A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215248



Internal ID22361645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:25515189..25530349hg38UCSC Ensembl
Outerchr1:25841680..25856840hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38634
hg19634
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261052, nssv14261053
SamplesNA19238, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215248
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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