A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6043380



Internal ID21952684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203500071..203500071hg38UCSC Ensembl
chr1:203469199..203469199hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17530214
Samples
Known GenesOPTC
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6043380
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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