A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5622244



Internal ID21570549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218711870..218711870hg38UCSC Ensembl
chr2:219576593..219576593hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38333
hg19333
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17111440
SamplesHG00731
Known GenesTTLL4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5622244
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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