A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17695496



Internal ID119162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:30050125..30050480hg38UCSC Ensembl
chr14:30519331..30519686hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38356
hg19356
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5506963
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17695496
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.004995


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