A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3553972



Internal ID22422841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:145028002..145028002hg38UCSC Ensembl
chr8:146253388..146253388hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381294
hg191294
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14429345, nssv14466303
SamplesHG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3553972
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