A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14406375



Internal ID22326976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:12528856..12528908hg38UCSC Ensembl
chr2:12668982..12669034hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193366
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14406375
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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