A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193548



Internal ID22343983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:61615130..61670336hg38UCSC Ensembl
Outerchr1:62080802..62136008hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3855207
hg1955207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255200, nssv14255201, nssv14255199, nssv14255203, nssv14255202
SamplesHG00512, HG00732, HG00733, HG00513, HG00514
Known GenesMGC34796
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193548
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