A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14292060



Internal ID22184137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27359344..27359460hg38UCSC Ensembl
chr2:27582211..27582327hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526711
Supporting Variants
SamplesHG00731
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14292060
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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