A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18217360



Internal ID20784400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:121058501..121062600hg38UCSC Ensembl
chr7:120698555..120702654hg19UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg384100
hg194100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6604040
Supporting Variants
Samples
Known GenesCPED1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18217360
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0002


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