A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14308630



Internal ID22307510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:128953526..128956228hg38UCSC Ensembl
chr3:128672369..128675071hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg382703
hg192703
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3525644
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14308630
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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