A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5431247



Internal ID210028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:144306494..144310235hg38UCSC Ensembl
chrX:143389619..143393360hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg383742
hg193742
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737705
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5431247
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