A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5965368



Internal ID22740303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:64762131..64762131hg38UCSC Ensembl
chr5:64057958..64057958hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17422365
Samples
Known GenesSREK1IP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5965368
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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