A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14420930



Internal ID22158772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5927387..5933650hg38UCSC Ensembl
chr12:6036553..6042816hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg386264
hg196264
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198775
Supporting Variants
SamplesHG00514
Known GenesANO2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14420930
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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