A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18180248



Internal ID20747288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29755854..29780703hg38UCSC Ensembl
chr17:28082872..28107721hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3824850
hg1924850
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6508910
Supporting Variants
Samples
Known GenesSSH2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18180248
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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