A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18020696



Internal ID20587736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64465101..64465800hg38UCSC Ensembl
chr14:64931819..64932518hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38700
hg19700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6487297
Supporting Variants
Samples
Known GenesAKAP5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18020696
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.05892


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