A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17736397



Internal ID160063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:30246001..30246094hg38UCSC Ensembl
chrX:30264118..30264211hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5426411
Supporting Variants
Samples
Known GenesMAGEB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17736397
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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