A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3281544



Internal ID22379870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231249802..231249950hg38UCSC Ensembl
chr2:232114515..232114663hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5032n152
Supporting Variantsnssv14406563, nssv14433892
SamplesNA19240, HG00514
Known GenesARMC9
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)nsv3281544
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