A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14326403



Internal ID22314133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:41191351..41194350hg38UCSC Ensembl
chr6:41159089..41162088hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg383000
hg193000
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208935
Supporting Variants
SamplesNA19240
Known GenesTREML2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14326403
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