A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192845



Internal ID22343376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31260014..31260509hg38UCSC Ensembl
chr22:31656000..31656495hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38496
hg19496
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14451232
SamplesHG00733
Known GenesLIMK2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192845
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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