A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199229



Internal ID22348845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45038594..45038676hg38UCSC Ensembl
chr12:45432377..45432459hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14448437, nssv14421441, nssv14395413
SamplesNA19240, HG00733, HG00514
Known GenesDBX2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199229
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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