A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3545487



Internal ID22414495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4334809..4334809hg38UCSC Ensembl
chr19:4334806..4334806hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14393431, nssv14419945, nssv14447106
SamplesNA19240, HG00733, HG00514
Known GenesSTAP2
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)nsv3545487
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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