A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5907141



Internal ID22682346
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 StatusM
Merged Variants
Supporting Variantsnssv17410739
Samples
Known GenesGALNTL6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5907141
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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