A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18223785



Internal ID20790825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:61286201..61290100hg38UCSC Ensembl
chr8:62198760..62202659hg19UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg383900
hg193900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6428852
Supporting Variants
Samples
Known GenesCLVS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18223785
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00031


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