A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696512



Internal ID120178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:39097910..39102105hg38UCSC Ensembl
chr14:39567114..39571309hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg384196
hg194196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5505242
Supporting Variants
Samples
Known GenesSEC23A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696512
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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