A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18190504



Internal ID20757544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:727957..886727hg38UCSC Ensembl
chr17:631197..789967hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38158771
hg19158771
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6508475
Supporting Variants
Samples
Known GenesDBIL5P, FAM57A, GEMIN4, GLOD4, NXN, RNMTL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18190504
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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