A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6609418



Internal ID20982489
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 StatusM
Merged Variants
Supporting Variantsnssv18219751
Samples
Known GenesPOU6F2, POU6F2-AS1, YAE1D1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6609418
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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