A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427672



Internal ID206572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:147219005..147220627hg38UCSC Ensembl
chrX:146300523..146302145hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg381623
hg191623
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737821
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427672
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