A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17695358



Internal ID119024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21717191..21717290hg38UCSC Ensembl
chr14:22185414..22185513hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5500087
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17695358
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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