A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5409405



Internal ID188726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:60973718..60973769hg38UCSC Ensembl
chr10:62733476..62733527hg19UCSC Ensembl
Cytoband10q21.2
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17033894
Samples
Known GenesRHOBTB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5409405
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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