A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3550171



Internal ID22419101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:94049304..94049304hg38UCSC Ensembl
chr8:95061532..95061532hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14429246
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3550171
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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