A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18177551



Internal ID20744591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4869520..4948195hg38UCSC Ensembl
chr17:4772815..4851490hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3878676
hg1978676
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6502092
Supporting Variants
Samples
Known GenesC17orf107, CHRNE, GP1BA, MINK1, PFN1, RNF167, SLC25A11
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18177551
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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