A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14407625



Internal ID22298511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:10802706..10802768hg38UCSC Ensembl
chr20:10783354..10783416hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3298001
Supporting Variants
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)nssv14407625
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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