A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17703029



Internal ID126695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:49192696..49192965hg38UCSC Ensembl
chr15:49484893..49485162hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5533171
Supporting Variants
Samples
Known GenesGALK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17703029
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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