A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18193743



Internal ID20760783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:74732546..74733636hg38UCSC Ensembl
chr17:72728685..72729775hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381091
hg191091
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6531441
Supporting Variants
Samples
Known GenesRAB37
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18193743
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.5017


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