A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17617524



Internal ID21809571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:90694657..92547405hg38UCSC Ensembl
chr14:91161001..93013750hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg381852749
hg191852750
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6030303
Supporting Variants
Samples
Known GenesATXN3, C14orf159, CATSPERB, CCDC88C, CPSF2, FBLN5, GPR68, NDUFB1, RIN3, RPS6KA5, SLC24A4, SMEK1, SNORA11B, TC2N, TRIP11, TTC7B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17617524
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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