A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17698704



Internal ID122370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:96742398..96743639hg38UCSC Ensembl
chr14:97208735..97209976hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg381242
hg191242
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5502423
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17698704
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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