A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14296282



Internal ID22254367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201683071..201683149hg38UCSC Ensembl
chr2:202547794..202547872hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526599
Supporting Variants
SamplesNA19238
Known GenesMPP4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14296282
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