A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5995992



Internal ID21905335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:172894461..172900227hg38UCSC Ensembl
chr4:173815612..173821378hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg385767
hg195767
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17543836
Samples
Known GenesGALNTL6
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5995992
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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