A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18021804



Internal ID20588844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:92101724..92104710hg38UCSC Ensembl
chr14:92568068..92571054hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg382987
hg192987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6500924
Supporting Variants
Samples
Known GenesATXN3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18021804
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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