A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220601



Internal ID22365254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:18883619..18891180hg38UCSC Ensembl
Outerchr17:18786932..18794493hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg387562
hg197562
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260543, nssv14260541, nssv14260544, nssv14260542
SamplesNA19238, HG00731, NA19240, HG00513
Known GenesPRPSAP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220601
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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