A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17701666



Internal ID125332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:45419222..45424137hg38UCSC Ensembl
chr15:45711420..45716335hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg384916
hg194916
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145729
Supporting Variants
Samples
Known GenesSPATA5L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17701666
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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