A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14310274



Internal ID22126495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194152411..194152468hg38UCSC Ensembl
chr3:193870200..193870257hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199169
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14310274
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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