A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14425112



Internal ID22164846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132730343..132730406hg38UCSC Ensembl
chr12:133306929..133306992hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203751
Supporting Variants
SamplesHG00514
Known GenesANKLE2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14425112
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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