A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3551509



Internal ID22420420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:5558988..5558988hg38UCSC Ensembl
chr7_gl000195_random:81366..81366hg19UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg384800
hg194800
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14422047, nssv14449583, nssv14395141
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)nsv3551509
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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