A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6053145



Internal ID21962378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:236344888..236344888hg38UCSC Ensembl
chr2:237253531..237253531hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17525448
Samples
Known GenesIQCA1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6053145
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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