A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556398



Internal ID329536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:18334634..18334685hg38UCSC Ensembl
chrX:18352754..18352805hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg386015
hg196015
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739487
Samples
Known GenesSCML2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556398
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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