A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14406636



Internal ID22321084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:19678296..19678424hg38UCSC Ensembl
chr20:19658940..19659068hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3273181
Supporting Variants
SamplesNA19240
Known GenesSLC24A3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a SVA mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14406636
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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