A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14288920



Internal ID22217836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25216516..25216974hg38UCSC Ensembl
chr2:25439385..25439843hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38459
hg19459
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208488
Supporting Variants
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14288920
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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