A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18216307



Internal ID20783347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:72955301..72957200hg38UCSC Ensembl
chr5:72251128..72253027hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381900
hg191900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6411473
Supporting Variants
Samples
Known GenesFCHO2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18216307
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00016


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