A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18178935



Internal ID20745975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4143196..4215553hg38UCSC Ensembl
chr17:4046490..4118848hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3872358
hg1972359
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6496761
Supporting Variants
Samples
Known GenesANKFY1, CYB5D2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18178935
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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