A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3549917



Internal ID22418855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:136950651..136950651hg38UCSC Ensembl
chr8:137962894..137962894hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg381546
hg191546
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14402882
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3549917
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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