A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3557030



Internal ID22425844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111257394..111257394hg38UCSC Ensembl
chr12:111695198..111695198hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14416172
SamplesHG00514
Known GenesCUX2
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)nsv3557030
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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