A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18213818



Internal ID20780858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:167024730..167028032hg38UCSC Ensembl
chr4:167945881..167949183hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg383303
hg193303
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6385433
Supporting Variants
Samples
Known GenesSPOCK3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18213818
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00015


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