A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17739448



Internal ID163114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:16761551..16761601hg38UCSC Ensembl
chrX:16779674..16779724hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg383356
hg193356
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5563293
Supporting Variants
Samples
Known GenesSYAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17739448
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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