A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14295568



Internal ID22161237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172315260..172321375hg38UCSC Ensembl
chr2:173179988..173186103hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg386116
hg196116
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206551
Supporting Variants
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14295568
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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