A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14450996



Internal ID22246096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45208320..45208320hg38UCSC Ensembl
chr22:45604201..45604201hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3548387
Supporting Variants
SamplesHG00733
Known GenesKIAA0930
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)nssv14450996
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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