A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14342458



Internal ID22262448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:51404349..51404587hg38UCSC Ensembl
chr8:52316909..52317147hg19UCSC Ensembl
Cytoband8q11.22
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3527233
Supporting Variants
SamplesNA19238
Known GenesPXDNL
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14342458
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