A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5647947



Internal ID21596252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40818851..40818851hg38UCSC Ensembl
chr17:38975103..38975103hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17096173
SamplesNA12878
Known GenesKRT10
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5647947
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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