A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5949317



Internal ID22724767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172411750..172411750hg38UCSC Ensembl
chr2:173276478..173276478hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17396668
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5949317
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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