A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17738038



Internal ID161704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:152869384..153060570hg38UCSC Ensembl
chrX:152037928..152228930hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38191187
hg19191003
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138079
Supporting Variants
Samples
Known GenesPNMA3, PNMA5, ZNF185
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17738038
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000832466


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