A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3290972



Internal ID22387798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:39217011..39217072hg38UCSC Ensembl
chr21:40588937..40588998hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14407687
SamplesNA19240
Known GenesBRWD1
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)nsv3290972
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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