A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18216393



Internal ID20783433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1706390..1816739hg38UCSC Ensembl
chr5:1706505..1816853hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38110350
hg19110349
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6391460
Supporting Variants
Samples
Known GenesMIR4277, MRPL36, NDUFS6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18216393
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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