A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5966594



Internal ID22741529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76974447..76974447hg38UCSC Ensembl
chr5:76270272..76270272hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38294
hg19294
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17415524
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5966594
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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