A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214339



Internal ID20781379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:954574..1028227hg38UCSC Ensembl
chr4:948362..1022015hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3873654
hg1973654
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6364257
Supporting Variants
Samples
Known GenesDGKQ, FGFRL1, IDUA, SLC26A1, TMEM175
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214339
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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