A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222556



Internal ID22366596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:37185609..37194968hg38UCSC Ensembl
Outerchr8:37043127..37052486hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg389360
hg199360
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282189, nssv14282187, nssv14282190, nssv14282188
SamplesHG00512, NA19240, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222556
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