A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201518



Internal ID20768559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150270807..150297111hg38UCSC Ensembl
chr1:150243208..150269534hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3826305
hg1926327
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6332627
Supporting Variants
Samples
Known GenesC1orf51, C1orf54, MRPS21
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201518
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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