A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6050558



Internal ID21959791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241590953..241590953hg38UCSC Ensembl
chr2:242530368..242530368hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38771
hg19771
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17529660
Samples
Known GenesTHAP4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6050558
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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