A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17741452



Internal ID165118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:92162341..92170937hg38UCSC Ensembl
chrX:91417340..91425936hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg388597
hg198597
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138449
Supporting Variants
Samples
Known GenesPCDH11X
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17741452
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000626436


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