A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14289803



Internal ID22140475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:57780942..57781507hg38UCSC Ensembl
chr2:58008077..58008642hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38566
hg19566
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201523
Supporting Variants
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14289803
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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