A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5649755



Internal ID21598060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:40808646..40808646hg38UCSC Ensembl
chr13:41382782..41382782hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17084463
SamplesNA19238
Known GenesSLC25A15, TPTE2P5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5649755
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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