A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14443034



Internal ID22228342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55287855..55288053hg38UCSC Ensembl
chr12:55681639..55681837hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38199
hg19199
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209717
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)nssv14443034
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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