A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18226046



Internal ID20793086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148869198..148869790hg38UCSC Ensembl
chr7:148566290..148566882hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38593
hg19593
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6419247
Supporting Variants
Samples
Known GenesEZH2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18226046
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.02292


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