A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17742665



Internal ID166331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:139768415..139774299hg38UCSC Ensembl
chrX:138850574..138856458hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg385885
hg195885
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6137924
Supporting Variants
Samples
Known GenesATP11C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17742665
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000416233


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