A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14395698



Internal ID22297316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:77705237..77706957hg38UCSC Ensembl
chr12:78099017..78100737hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg381721
hg191721
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200534
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)nssv14395698
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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