A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18227991



Internal ID20795031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100953001..100957800hg38UCSC Ensembl
chr8:101965229..101970028hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg384800
hg194800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6420121
Supporting Variants
Samples
Known GenesYWHAZ
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18227991
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00071


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