A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5614046



Internal ID21562351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:69091991..69091991hg38UCSC Ensembl
chr3:69141142..69141142hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17121512
SamplesHG00171
Known GenesARL6IP5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5614046
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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