A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554663



Internal ID327842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:40954700..40954751hg38UCSC Ensembl
chrX:40813953..40814004hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38434
hg19434
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17736537
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554663
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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