A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3276358



Internal ID22377801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:191398209..191398384hg38UCSC Ensembl
chr2:192262935..192263110hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14465083
SamplesHG00733
Known GenesMYO1B
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a SVA mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3276358
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