A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18219217



Internal ID20786257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:35253401..35254900hg38UCSC Ensembl
chr7:35293012..35294511hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg381500
hg191500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6612953
Supporting Variants
Samples
Known GenesTBX20
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18219217
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00031


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