A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5670947



Internal ID21619252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52344011..52502256hg38UCSC Ensembl
chr13:52918146..53076391hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38158246
hg19158246
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17092273
SamplesNA19238
Known GenesCKAP2, THSD1, TPTE2P3, VPS36
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5670947
Frequency
Sample Size35
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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