A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14365460



Internal ID22215845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98490793..98490793hg38UCSC Ensembl
chr12:98884571..98884571hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3560005
Supporting Variants
SamplesHG00733
Known GenesLOC643770
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14365460
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