A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3543393



Internal ID22412450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43798137..43798137hg38UCSC Ensembl
chr19:44302289..44302289hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14393988, nssv14421115
SamplesNA19240, HG00514
Known GenesLYPD5
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)nsv3543393
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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