A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5617338



Internal ID21565643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:119647958..119647958hg38UCSC Ensembl
chrX:118781921..118781921hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17165083
SamplesNA19238
Known GenesSEPT6
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5617338
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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