A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14306002



Internal ID22133177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:38326852..38326919hg38UCSC Ensembl
chr3:38368343..38368410hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3525440
Supporting Variants
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14306002
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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