A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5618014



Internal ID21566319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:50057670..50057670hg38UCSC Ensembl
chrX:49822327..49822327hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg383128
hg193128
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17167456
SamplesHG00864
Known GenesCLCN5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5618014
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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