A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14293241



Internal ID22256768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:94646690..94646808hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38119
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205142
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14293241
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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