A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17425043



Internal ID22482913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:57107372..57109570hg38UCSC Ensembl
chr4:57973538..57975736hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg382199
hg192199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5896482
Supporting Variants
Samples
Known GenesIGFBP7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17425043
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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