A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17701213



Internal ID124879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:47541067..47548532hg38UCSC Ensembl
chr15:47833264..47840729hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg387466
hg197466
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5522010
Supporting Variants
Samples
Known GenesSEMA6D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17701213
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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