A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6042993



Internal ID21952305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226568983..226568983hg38UCSC Ensembl
chr1:226756684..226756684hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17525451
Samples
Known GenesC1orf95
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6042993
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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