A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5956606



Internal ID22731782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218307330..218307330hg38UCSC Ensembl
chr2:219172053..219172053hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17402933
Samples
Known GenesPNKD
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5956606
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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