A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18187231



Internal ID20754271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29758801..29763100hg38UCSC Ensembl
chr17:28085819..28090118hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg384300
hg194300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6504470
Supporting Variants
Samples
Known GenesSSH2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18187231
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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