A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14462683



Internal ID22214219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:1012613..1018441hg38UCSC Ensembl
chr8:962613..968441hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg385829
hg195829
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3188160
Supporting Variants
SamplesHG00733
Known GenesERICH1-AS1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14462683
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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