A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18178517



Internal ID20745557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:600589..820449hg38UCSC Ensembl
chr17:503829..723689hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38219861
hg19219861
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6508163
Supporting Variants
Samples
Known GenesDBIL5P, FAM57A, GEMIN4, GLOD4, NXN, RNMTL1, VPS53
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18178517
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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