A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3549671



Internal ID22418613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:115374492..115374492hg38UCSC Ensembl
chr12:115812297..115812297hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38220
hg19220
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14380619, nssv14416195
SamplesNA19240, HG00514
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)nsv3549671
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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