A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14433739



Internal ID22176690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:89327681..91430728hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg382103048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208952
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14433739
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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