A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3282262



Internal ID22380595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:209904710..209912626hg38UCSC Ensembl
chr1:210078055..210085971hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg387917
hg197917
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv541n152
Supporting Variantsnssv14465023
SamplesHG00733
Known Genes
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)nsv3282262
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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