A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14437838



Internal ID22180937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19479757..19479824hg38UCSC Ensembl
chr8:19337268..19337335hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3175425
Supporting Variants
SamplesHG00514
Known GenesCSGALNACT1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14437838
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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