A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3181930



Internal ID22336824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48174007..48174991hg38UCSC Ensembl
chr8:49086567..49087551hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38985
hg19985
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9160n152
Supporting Variantsnssv14428483, nssv14402350
SamplesNA19240, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3181930
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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