A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17740215



Internal ID163881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:55728000..56175100hg38UCSC Ensembl
chrX:55754433..56201533hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg38447101
hg19447101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138507
Supporting Variants
Samples
Known GenesRRAGB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17740215
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000627746


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