A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417649



Internal ID196841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:16578838..16584168hg38UCSC Ensembl
chrX:16596961..16602291hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg385331
hg195331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739438
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417649
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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