A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3297829



Internal ID22388723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:24605973..24606041hg38UCSC Ensembl
chr22:25001940..25002008hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5697n152
Supporting Variantsnssv14459829, nssv14432820
SamplesHG00733, HG00514
Known GenesGGT1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3297829
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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