A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17410739



Internal ID22468609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:172971852..172987686hg38UCSC Ensembl
chr4:173893003..173908837hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg3815835
hg1915835
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5907141
Supporting Variants
Samples
Known GenesGALNTL6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17410739
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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