A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3284210



Internal ID22382570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:11637927..11637977hg38UCSC Ensembl
chr16:11731783..11731833hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14404830
SamplesNA19240
Known Genes
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)nsv3284210
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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