A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3544190



Internal ID22413233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:9970026..9970026hg38UCSC Ensembl
chr19:10080702..10080702hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14446295
SamplesHG00733
Known GenesCOL5A3
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)nsv3544190
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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