A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18192274



Internal ID20759314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:56975901..56979900hg38UCSC Ensembl
chr17:55053262..55057261hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg384000
hg194000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6535108
Supporting Variants
Samples
Known GenesSCPEP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18192274
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00015


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