A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3182123



Internal ID22336925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:396930..396982hg38UCSC Ensembl
chr6:396930..396982hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14436201, nssv14412108
SamplesNA19240, HG00514
Known GenesIRF4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3182123
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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