A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14323886



Internal ID22138813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:71474568..71474901hg38UCSC Ensembl
chr5:70770395..70770728hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526346
Supporting Variants
SamplesHG00513
Known GenesBDP1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14323886
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