A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17740136



Internal ID163802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:54046964..54054964hg38UCSC Ensembl
chrX:54073397..54081397hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg388001
hg198001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138737
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17740136
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000634921


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