A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18226496



Internal ID20793536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48915301..48927000hg38UCSC Ensembl
chr8:49827860..49839559hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3811700
hg1911700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6429848
Supporting Variants
Samples
Known GenesSNAI2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18226496
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00051


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