A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17737369



Internal ID161035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:120241384..120241728hg38UCSC Ensembl
chrX:119375237..119375583hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38345
hg19347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5427106
Supporting Variants
Samples
Known GenesNKAPP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17737369
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.036528


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