A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3553214



Internal ID22422100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42385055..42385055hg38UCSC Ensembl
chr21:43805164..43805164hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38288
hg19288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14451181
SamplesHG00733
Known GenesTMPRSS3
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)nsv3553214
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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