A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3549474



Internal ID22418421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:38207570..38207570hg38UCSC Ensembl
chr21:39579664..39579664hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14450042, nssv14395669, nssv14423697
SamplesNA19240, HG00733, HG00514
Known GenesDSCR10
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)nsv3549474
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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