A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3944999



Internal ID21365068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:47089406..47089406hg38UCSC Ensembl
chrX:46948805..46948805hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg381443
hg191443
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15205999
SamplesHG002
Known GenesRGN
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3944999
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer