A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427476



Internal ID206380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:68655861..68657449hg38UCSC Ensembl
chrX:67875703..67877291hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg381589
hg191589
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740546
Samples
Known GenesSTARD8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427476
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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