A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210855



Internal ID22358616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:55931550..55960304hg38UCSC Ensembl
Outerchr1:56397223..56425977hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg381617
hg191617
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273024, nssv14273023
SamplesHG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210855
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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