A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3548114



Internal ID22417075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:51517829..51517829hg38UCSC Ensembl
chr19:52021083..52021083hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38464
hg19464
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14448053
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)nsv3548114
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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