A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14394743



Internal ID22324572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57873386..57873440hg38UCSC Ensembl
chr12:58267169..58267223hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191797
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)nssv14394743
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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