A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246607



Internal ID22376463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:50449631..50456819hg38UCSC Ensembl
chr18:47976001..47983189hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg387189
hg197189
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3853n152
Supporting Variantsnssv14392644
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion variant involving LTR satellite DNA
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246607
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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