A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215726



Internal ID22361959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170041939..170046931hg38UCSC Ensembl
Outerchr6:170357163..170362155hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg382821
hg192821
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279040
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215726
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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