A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5961526



Internal ID22736473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171033547..171033547hg38UCSC Ensembl
chr2:171890057..171890057hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17409098
Samples
Known GenesTLK1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5961526
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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