A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6050743



Internal ID21959976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:228053630..228053630hg38UCSC Ensembl
chr2:228918346..228918346hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17529116
Samples
Known GenesSPHKAP
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6050743
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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