A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14441768



Internal ID22238109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9232351..9232873hg38UCSC Ensembl
chr12:9384947..9385469hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38523
hg19523
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207025
Supporting Variants
SamplesHG00733
Known GenesA2MP1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14441768
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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