A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14407694



Internal ID22320200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:39973436..39976111hg38UCSC Ensembl
chr21:41345363..41348038hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg382676
hg192676
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198567
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14407694
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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