A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18223848



Internal ID20790888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:12686501..12687900hg38UCSC Ensembl
chr7:12726126..12727525hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg381400
hg191400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6615376
Supporting Variants
Samples
Known GenesARL4A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18223848
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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