A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3300516



Internal ID22389107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46680800..46680884hg38UCSC Ensembl
chr22:47076697..47076781hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14408100
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3300516
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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