A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17704246



Internal ID127912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:64971345..64972555hg38UCSC Ensembl
chr15:65263683..65264893hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg381211
hg191211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5516429
Supporting Variants
Samples
Known GenesSPG21
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17704246
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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