A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3935080



Internal ID21355150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:84080387..84080387hg38UCSC Ensembl
chrX:83335395..83335395hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg381372
hg191372
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15206119
SamplesHG002
Known GenesRPS6KA6
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3935080
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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