A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14451078



Internal ID22246165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124911907..124912135hg38UCSC Ensembl
chr12:125396453..125396681hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38229
hg19229
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192083
Supporting Variants
SamplesHG00733
Known GenesUBC
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14451078
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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