A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3526898



Internal ID22396282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:67515246..67515501hg38UCSC Ensembl
chr5:66811074..66811329hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14323174, nssv14323175, nssv14323171, nssv14323172, nssv14323173
SamplesHG00512, HG00731, HG00732, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3526898
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer