A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14441807



Internal ID22238143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:65069857..65070122hg38UCSC Ensembl
chr12:65463637..65463902hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193384
Supporting Variants
SamplesHG00733
Known GenesWIF1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14441807
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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