A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18219751



Internal ID20786791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:39384078..39613241hg38UCSC Ensembl
chr7:39423677..39652840hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38229164
hg19229164
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6609418
Supporting Variants
Samples
Known GenesPOU6F2, POU6F2-AS1, YAE1D1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18219751
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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