A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17425714



Internal ID22483584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41420577..41426580hg38UCSC Ensembl
chr5:41420679..41426682hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg386004
hg196004
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5890059
Supporting Variants
Samples
Known GenesPLCXD3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17425714
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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