A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14324550



Internal ID22267352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173609432..173613128hg38UCSC Ensembl
chr5:173036435..173040131hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg383697
hg193697
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204413
Supporting Variants
SamplesNA19238
Known GenesBOD1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14324550
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