A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3942335



Internal ID21362404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:80396884..80396884hg38UCSC Ensembl
chrX:79652383..79652383hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38837
hg19837
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15206034
SamplesHG002
Known GenesFAM46D
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3942335
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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