A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5396567



Internal ID175983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:18027973..18028024hg38UCSC Ensembl
chr3:18069465..18069516hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16929228
Samples
Known GenesLOC339862
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5396567
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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