A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1695n152



Internal ID22817398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5927387..5933650hg38UCSC Ensembl
chr12:6036553..6042816hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg386264
hg196264
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3208703, nsv3198775
SamplesNA19240, HG00733, HG00514
Known GenesANO2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv1695n152
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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