A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3553064



Internal ID22421952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117097659..117097659hg38UCSC Ensembl
chr8:118109898..118109898hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14429304
SamplesHG00514
Known GenesSLC30A8
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3553064
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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