A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17739464



Internal ID163130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:17229122..17479567hg38UCSC Ensembl
chrX:17247245..17497690hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg38250446
hg19250446
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5433550
Supporting Variants
Samples
Known GenesMIR4768, NHS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17739464
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00062435


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