A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194023



Internal ID22344395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:207359905..207380776hg38UCSC Ensembl
Outerchr1:207533250..207554121hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3820872
hg1920872
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv538n152
Supporting Variantsnssv14276535
SamplesNA19238
Known GenesCD55
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194023
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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