A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18053833



Internal ID20620873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:171633876..171636394hg38UCSC Ensembl
chr1:171603016..171605534hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg382519
hg192519
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6334884
Supporting Variants
Samples
Known GenesMYOC
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18053833
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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