A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3546824



Internal ID22415806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:40448668..40448668hg38UCSC Ensembl
chr12:40842470..40842470hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14443945
SamplesHG00733
Known GenesMUC19
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)nsv3546824
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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