A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14454877



Internal ID22216352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:46577012..46577114hg38UCSC Ensembl
chr20:45205651..45205753hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214276
Supporting Variants
SamplesHG00733
Known GenesSLC13A3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14454877
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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