A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6602546



Internal ID20975617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:28790679..28793322hg38UCSC Ensembl
chr7:28830296..28832939hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg382644
hg192644
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18220249
Samples
Known GenesCREB5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6602546
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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