A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5641718



Internal ID21590023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32228599..32228599hg38UCSC Ensembl
chr5:32228705..32228705hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17125125
SamplesHG02818
Known GenesMTMR12
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5641718
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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