A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5639747



Internal ID21588052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:29069515..29069515hg38UCSC Ensembl
chr5:29069622..29069622hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg389127
hg199127
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17134411
SamplesHG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5639747
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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