A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231619



Internal ID22372278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:128460078..128472147hg38UCSC Ensembl
Outerchr10:130258342..130270411hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg385447
hg195447
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14252940, nssv14252941, nssv14252942, nssv14252939, nssv14252938
SamplesNA19238, NA19239, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231619
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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