A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18213192



Internal ID20780232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:127069201..127079800hg38UCSC Ensembl
chr5:126404893..126415492hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3810600
hg1910600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6406085
Supporting Variants
Samples
Known GenesC5orf63
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18213192
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00025


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