A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14395664



Internal ID22297189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:75942175..75942351hg38UCSC Ensembl
chr12:76335955..76336131hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3273883
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a SVA mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14395664
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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