A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14398240



Internal ID22329000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:114760901..114766500hg38UCSC Ensembl
chr12:115198706..115204305hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg385600
hg195600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213641
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)nssv14398240
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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