A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14450744



Internal ID22220546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132730335..132730398hg38UCSC Ensembl
chr12:133306921..133306984hg19UCSC 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 Variantsnsv3209968
Supporting Variants
SamplesHG00733
Known GenesANKLE2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14450744
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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