A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14366520



Internal ID22224138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:55240234..55240579hg38UCSC Ensembl
chr1:55705907..55706252hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38346
hg19346
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203330
Supporting Variants
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14366520
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