A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3552166



Internal ID22421065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:96239621..96239621hg38UCSC Ensembl
chr8:97251849..97251849hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg384091
hg194091
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14454190
SamplesHG00733
Known GenesMTERFD1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3552166
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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