A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3554712



Internal ID22423568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:102631764..102631764hg38UCSC Ensembl
chr8:103643992..103643992hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14429270
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)nsv3554712
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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