A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14395704



Internal ID22299475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42432403..42432606hg38UCSC Ensembl
chr21:43852512..43852715hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38204
hg19204
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200909
Supporting Variants
SamplesNA19240
Known GenesUBASH3A
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14395704
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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