A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5416472



Internal ID195695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:110070789..110094562hg38UCSC Ensembl
chrX:109314017..109337790hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3823774
hg1923774
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17741943
Samples
Known GenesMIR3978, TMEM164
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5416472
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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