A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3282372



Internal ID22380706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:99263576..99263648hg38UCSC Ensembl
chr3:98982420..98982492hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6086n152
Supporting Variantsnssv14461689, nssv14434583
SamplesHG00733, HG00514
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)nsv3282372
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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