A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14437248



Internal ID22180451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:137525191..137525547hg38UCSC Ensembl
chr8:138537434..138537790hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38357
hg19357
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198490
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14437248
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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