A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14330195



Internal ID22210892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:125342452..125342997hg38UCSC Ensembl
chr6:125663598..125664143hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38546
hg19546
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194007
Supporting Variants
SamplesHG00732
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14330195
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