A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17740242



Internal ID163908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:56254964..56438982hg38UCSC Ensembl
chrX:56281397..56465415hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg38184019
hg19184019
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5430542
Supporting Variants
Samples
Known GenesKLF8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17740242
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00104537


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