A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17742664



Internal ID166330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:139709381..140181381hg38UCSC Ensembl
chrX:138791540..139263541hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg38472001
hg19472002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139018
Supporting Variants
Samples
Known GenesATP11C, CXorf66, LOC389895, MIR505
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17742664
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000626959


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