A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6049912



Internal ID21959145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227959198..227959198hg38UCSC Ensembl
chr1:228146899..228146899hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17525236
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6049912
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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