A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3280705



Internal ID22379019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:42796864..42799317hg38UCSC Ensembl
chr3:42838356..42840809hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg382454
hg192454
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5950n152
Supporting Variantsnssv14435271, nssv14409317, nssv14455805
SamplesNA19240, HG00733, HG00514
Known GenesHIGD1A
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3280705
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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