A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5949095



Internal ID22724548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:99493970..99493970hg38UCSC Ensembl
chr6:99941846..99941846hg19UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17446510
Samples
Known GenesUSP45
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5949095
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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