A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17003706



Internal ID70096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:137918846..137919233hg38UCSC Ensembl
chr7:137603592..137603979hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38388
hg19388
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5490669
Supporting Variants
Samples
Known GenesCREB3L2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17003706
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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