A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5951147



Internal ID22673761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113948973..113948973hg38UCSC Ensembl
chr2:114706550..114706550hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38426
hg19426
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17402153
Samples
Known GenesACTR3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5951147
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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