A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3296225



Internal ID22388518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:9616900..9618665hg38UCSC Ensembl
chr15:20022212..20024079hg19UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381766
hg191868
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14464869, nssv14432770
SamplesHG00733, HG00514
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)nsv3296225
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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