A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14330180



Internal ID22128664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:125010001..125013545hg38UCSC Ensembl
chr6:125331147..125334691hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg383545
hg193545
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192045
Supporting Variants
SamplesHG00512
Known GenesRNF217
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14330180
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