A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18223112



Internal ID20790152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:92100801..92104000hg38UCSC Ensembl
chr8:93113029..93116228hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg383200
hg193200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6419784
Supporting Variants
Samples
Known GenesRUNX1T1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18223112
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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