A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5394361



Internal ID173793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:14797109..14797160hg38UCSC Ensembl
chr5:14797218..14797269hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16962694
Samples
Known GenesANKH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5394361
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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