A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5953076



Internal ID22728372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:165947156..165947156hg38UCSC Ensembl
chr2:166803666..166803666hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17407580
Samples
Known GenesTTC21B, TTC21B-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5953076
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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