A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5606742



Internal ID21555047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:31284557..31284557hg38UCSC Ensembl
chrX:31302674..31302674hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg382082
hg192082
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17167043, nssv17167044
SamplesHG00096, NA19238
Known GenesDMD
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5606742
Frequency
Sample Size35
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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