A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5609243



Internal ID21557548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:83878202..83878202hg38UCSC Ensembl
chrX:83133210..83133210hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg381224
hg191224
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17168680
SamplesHG00731
Known GenesCYLC1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5609243
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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