A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14294332



Internal ID22130611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143921919..143922017hg38UCSC Ensembl
chr2:144679486..144679584hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203093
Supporting Variants
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14294332
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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