A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5649129



Internal ID21597434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:5730842..5730842hg38UCSC Ensembl
chr18:5730841..5730841hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17101713
SamplesHG03065
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5649129
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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