A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201716



Internal ID22350978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101890480..101890533hg38UCSC Ensembl
chr12:102284258..102284311hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14416626, nssv14375648
SamplesNA19240, HG00514
Known GenesDRAM1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201716
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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