A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5954679



Internal ID22729914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:217937078..217937078hg38UCSC Ensembl
chr2:218801801..218801801hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17403597
Samples
Known GenesTNS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5954679
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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