A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3544660



Internal ID22413693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29120628..29120628hg38UCSC Ensembl
chr22:29516616..29516616hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14451224
SamplesHG00733
Known GenesKREMEN1
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)nsv3544660
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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