A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5949615



Internal ID22725061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:105664575..105664575hg38UCSC Ensembl
chr7:105305022..105305022hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17435542
Samples
Known GenesATXN7L1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5949615
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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