A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14293719



Internal ID22272391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:121334594..121336122hg38UCSC Ensembl
chr2:122092170..122093698hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg381529
hg191529
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191910
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14293719
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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