A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14449574



Internal ID22244862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:5062846..5064362hg38UCSC Ensembl
chr21:45617669..45619185hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381517
hg191517
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235630
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion variant involving MER satellite DNA
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14449574
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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