A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14446311



Internal ID22242057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8864253..8865280hg38UCSC Ensembl
chr12:9016849..9017876hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381028
hg191028
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210177
Supporting Variants
SamplesHG00733
Known GenesA2ML1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14446311
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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