A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217542



Internal ID22363170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:103221102..103243527hg38UCSC Ensembl
Outerchr7:102861549..102883974hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3822426
hg1922426
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278090, nssv14278089
SamplesNA19238, HG00513
Known GenesDPY19L2P2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217542
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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