A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17424957



Internal ID22482827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:30499698..30500772hg38UCSC Ensembl
chr4:30501320..30502394hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg381075
hg191075
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5894309
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17424957
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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