A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3556200



Internal ID22425031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:63082393..63082393hg38UCSC Ensembl
chr15:63374592..63374592hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg38394
hg19394
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14418259, nssv14444558, nssv14386389
SamplesNA19240, HG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3556200
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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