A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14296934



Internal ID22131763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202285342..202286182hg38UCSC Ensembl
chr2:203150065..203150905hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38841
hg19841
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195757
Supporting Variants
SamplesHG00513
Known GenesNOP58
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14296934
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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