A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18186147



Internal ID20753187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:92791601..92797800hg38UCSC Ensembl
chr14:93257946..93264145hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg386200
hg196200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6505622
Supporting Variants
Samples
Known GenesGOLGA5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18186147
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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