A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248194



Internal ID22376909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:110600712..110605302hg38UCSC Ensembl
chr6:110921915..110926505hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg384591
hg194591
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8057n152
Supporting Variantsnssv14426483
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion variant involving MER satellite DNA
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248194
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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