A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3188076



Internal ID22340065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:117500920..117501059hg38UCSC Ensembl
chr6:117822083..117822222hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14436680
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)nsv3188076
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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