A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14298083



Internal ID22294166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239930783..239930955hg38UCSC Ensembl
chr2:240870200..240870372hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3280754
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14298083
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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