A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3280551



Internal ID22378864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197030147..197030399hg38UCSC Ensembl
chr3:196757018..196757270hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38253
hg19253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6345n152
Supporting Variantsnssv14434153
SamplesHG00514
Known Genes
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)nsv3280551
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