A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207570



Internal ID22355937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6949994..6952303hg38UCSC Ensembl
chr12:7059157..7061466hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg382310
hg192310
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1702n152
Supporting Variantsnssv14441745
SamplesHG00733
Known GenesPTPN6
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207570
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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