A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548822



Internal ID322542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:119647969..119648020hg38UCSC Ensembl
chrX:118781932..118781983hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737332
Samples
Known GenesSEPT6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548822
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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