A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5641394



Internal ID21589699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76578872..76578872hg38UCSC Ensembl
chr5:75874697..75874697hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17150906
SamplesHG00513
Known GenesIQGAP2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5641394
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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