A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199322



Internal ID22348922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:16678683..16678913hg38UCSC Ensembl
chr12:16831617..16831847hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38231
hg19231
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14375650
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199322
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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