A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17697247



Internal ID120913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:91457297..91457532hg38UCSC Ensembl
chr14:91923641..91923876hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38236
hg19236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511256
Supporting Variants
Samples
Known GenesSMEK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17697247
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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