A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14449893



Internal ID22221408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:67632313..67632672hg38UCSC Ensembl
chr12:68026093..68026452hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38360
hg19360
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200954
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14449893
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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