A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3556388



Internal ID22425213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:103768615..103768615hg38UCSC Ensembl
chr12:104162393..104162393hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38539
hg19539
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14443651
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3556388
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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