A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6053341



Internal ID21962574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:20694459..20694459hg38UCSC Ensembl
chr2:20894219..20894219hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38285
hg19285
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17537515
Samples
Known GenesC2orf43
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6053341
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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