A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556075



Internal ID329221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:129543789..129543840hg38UCSC Ensembl
chrX:128677766..128677817hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737550
Samples
Known GenesOCRL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556075
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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