A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5406188



Internal ID185529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:173171047..173171098hg38UCSC Ensembl
chr4:174092198..174092249hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38251
hg19251
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16961019
Samples
Known GenesGALNT7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5406188
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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