A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271517



Internal ID22234384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:83132834..83162513hg38UCSC Ensembl
Outerchr1:83598517..83628196hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg381599
hg191599
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211906
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271517
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer