A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14322710



Internal ID22116511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:82908752..82908871hg38UCSC Ensembl
chr5:82204571..82204690hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526013
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14322710
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