A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18184419



Internal ID20751459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50194818..50198710hg38UCSC Ensembl
chr17:48272179..48276071hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg383893
hg193893
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6524145
Supporting Variants
Samples
Known GenesCOL1A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18184419
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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