A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14314302



Internal ID22168976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:75674876..75676490hg38UCSC Ensembl
chr4:76600060..76601674hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg381615
hg191615
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196880
Supporting Variants
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14314302
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer