A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237001



Internal ID22373756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88549138..88563151hg38UCSC Ensembl
Outerchr16:88615546..88629559hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38699
hg19699
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259864
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237001
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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