A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18021238



Internal ID20588278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70097892..70098291hg38UCSC Ensembl
chr14:70564609..70565008hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38400
hg19400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6482148
Supporting Variants
Samples
Known GenesSLC8A3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18021238
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00083


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