A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3553754



Internal ID22422629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:77267439..77267439hg38UCSC Ensembl
chr12:77661219..77661219hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14441847, nssv14416524
SamplesHG00733, 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)nsv3553754
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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