A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17371013



Internal ID22596682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75846721..75848572hg38UCSC Ensembl
chr14:76313064..76314915hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381852
hg191852
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5945478
Supporting Variants
Samples
Known GenesTTLL5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17371013
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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