A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14433575



Internal ID22176404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49907554..49907627hg38UCSC Ensembl
chr20:48524091..48524164hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215651
Supporting Variants
SamplesHG00514
Known GenesSPATA2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14433575
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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