A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5409218



Internal ID188540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:160064844..160064895hg38UCSC Ensembl
chr5:159491851..159491902hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975987
Samples
Known GenesTTC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5409218
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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