A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419212



Internal ID198351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:140957000..141013381hg38UCSC Ensembl
chrX:140039165..140107557hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg3856382
hg1968393
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17742711
Samples
Known GenesSPANXB1, SPANXB2, SPANXF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419212
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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