A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5638256



Internal ID21586561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:38948713..38948713hg38UCSC Ensembl
chr5:38948815..38948815hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38808
hg19808
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17134332
SamplesHG02011
Known GenesRICTOR
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5638256
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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