A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14444206



Internal ID22240221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125856287..125856337hg38UCSC Ensembl
chr12:126340833..126340883hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200489
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14444206
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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