A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18039416



Internal ID20606456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:12667449..12667922hg38UCSC Ensembl
chr18:12667448..12667921hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38474
hg19474
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6530039
Supporting Variants
Samples
Known GenesCEP76, PSMG2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18039416
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00852


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