A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544244



Internal ID318412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:6219008..6219008hg38UCSC Ensembl
chrX:6137049..6137049hg19UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg381671
hg191671
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17736236
Samples
Known GenesNLGN4X
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544244
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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