A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5394883



Internal ID174309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:173171840..173171891hg38UCSC Ensembl
chr2:174036568..174036619hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16927249
Samples
Known GenesZAK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5394883
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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