A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5957481



Internal ID22732596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42188893..42188893hg38UCSC Ensembl
chr6:42156631..42156631hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17445685
Samples
Known GenesGUCA1B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5957481
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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