A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5525576



Internal ID301732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4535194..4535276hg38UCSC Ensembl
chr17:4438489..4438571hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17710978
Samples
Known GenesSPNS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5525576
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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