A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14436680



Internal ID22179836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:117500920..117501059hg38UCSC Ensembl
chr6:117822083..117822222hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3188076
Supporting Variants
SamplesHG00514
Known GenesDCBLD1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14436680
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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