A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192753



Internal ID22343292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:81687030..81687180hg38UCSC Ensembl
chr12:82080809..82080959hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14416548
SamplesHG00514
Known GenesPPFIA2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192753
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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