A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16947407



Internal ID32305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:37616038..37616089hg38UCSC Ensembl
chr4:37617660..37617711hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5406994
Supporting Variants
Samples
Known GenesRELL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16947407
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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