A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17496709



Internal ID22554643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41754728..41757702hg38UCSC Ensembl
chr5:41754830..41757804hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg382975
hg192975
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5842425
Supporting Variants
Samples
Known GenesOXCT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17496709
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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