A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200495



Internal ID20767535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:153953287..154092148hg38UCSC Ensembl
chr1:153925763..154064624hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38138862
hg19138862
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6328538
Supporting Variants
Samples
Known GenesCREB3L4, CRTC2, JTB, MIR6737, NUP210L, RAB13, RPS27, SLC39A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200495
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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