A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5965250



Internal ID22740185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218711870..218711870hg38UCSC Ensembl
chr2:219576593..219576593hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401911
Samples
Known GenesTTLL4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5965250
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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