A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18184112



Internal ID20751152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78919705..79477438hg38UCSC Ensembl
chr17:76915787..77473520hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38557734
hg19557734
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6529265
Supporting Variants
Samples
Known GenesC1QTNF1, C1QTNF1-AS1, CANT1, ENGASE, LGALS3BP, RBFOX3, TIMP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18184112
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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