A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3546753



Internal ID22415736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:24605936..24605936hg38UCSC Ensembl
chr22:25001903..25001903hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14449202
SamplesHG00733
Known GenesGGT1
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)nsv3546753
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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