A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3545804



Internal ID22414808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:91172197..91172197hg38UCSC Ensembl
chr12:91565974..91565974hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14443617
SamplesHG00733
Known GenesDCN
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)nsv3545804
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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