A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14397224



Internal ID22305916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128082962..128086564hg38UCSC Ensembl
chr12:128567507..128571109hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg383603
hg193603
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208058
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)nssv14397224
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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