A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14448437



Internal ID22243894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45038594..45038676hg38UCSC Ensembl
chr12:45432377..45432459hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199229
Supporting Variants
SamplesHG00733
Known GenesDBX2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14448437
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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