A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3543101



Internal ID22412165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:9054830..9054830hg38UCSC Ensembl
chr19:9165506..9165506hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14393909
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3543101
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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