A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2250n152



Internal ID22817953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45377943..45378022hg38UCSC Ensembl
chr13:45952078..45952157hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3193115, nsv3201090
SamplesNA19240, HG00733, HG00514
Known GenesTPT1-AS1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv2250n152
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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