A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14294172



Internal ID22134041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105489231..105489294hg38UCSC Ensembl
chr2:106105688..106105751hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526770
Supporting Variants
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14294172
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