A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17376456



Internal ID22602125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:69264819..69264819hg38UCSC Ensembl
chr14:69731536..69731536hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5972737
Supporting Variants
Samples
Known GenesGALNT16
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17376456
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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