A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14395675



Internal ID22297251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76119698..76123599hg38UCSC Ensembl
chr12:76513478..76517379hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg383902
hg193902
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207914
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)nssv14395675
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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