A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14423213



Internal ID22162079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124948817..124948869hg38UCSC Ensembl
chr12:125433363..125433415hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208761
Supporting Variants
SamplesHG00514
Known GenesDHX37
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14423213
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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