A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14326048



Internal ID22282499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:21347989..21348040hg38UCSC Ensembl
chr6:21348220..21348271hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204072
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14326048
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