A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14288849



Internal ID22137485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:21158293..21158293hg38UCSC Ensembl
chr2:21381165..21381165hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562217
Supporting Variants
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14288849
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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