A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14315820



Internal ID22169668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:83495804..83500290hg38UCSC Ensembl
chr4:84416957..84421443hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg384487
hg194487
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191802
Supporting Variants
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14315820
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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