A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17378425



Internal ID22436295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:57493271..57493508hg38UCSC Ensembl
chr14:57959989..57960226hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5928012
Supporting Variants
Samples
Known GenesC14orf105
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17378425
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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