A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414708



Internal ID193976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:38626487..38772766hg38UCSC Ensembl
chrX:38485740..38632019hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38146280
hg19146280
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17736452
Samples
Known GenesTSPAN7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414708
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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