A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14444153



Internal ID22227216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56523053..56523302hg38UCSC Ensembl
chr12:56916837..56917086hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208854
Supporting Variants
SamplesHG00733
Known GenesRBMS2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14444153
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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