A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17740522



Internal ID164188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:68327000..69075000hg38UCSC Ensembl
chrX:67546842..68294843hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg38748001
hg19748002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5421121
Supporting Variants
Samples
Known GenesEFNB1, OPHN1, STARD8, YIPF6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17740522
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000626959


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