A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5948838



Internal ID22724300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:143121395..143121395hg38UCSC Ensembl
chr6:143442532..143442532hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg38439
hg19439
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17418122
Samples
Known GenesAIG1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5948838
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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