A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3547590



Internal ID22416556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:9809749..9809749hg38UCSC Ensembl
chr4_gl000193_random:77063..77063hg19UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3845993
hg1945993
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14395162, nssv14422070
SamplesNA19240, 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)nsv3547590
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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