A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6046306



Internal ID21955551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:68228826..68228826hg38UCSC Ensembl
chrX:67448668..67448668hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17638634
Samples
Known GenesOPHN1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6046306
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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