A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17167456



Internal ID21449288
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 StatusS
Merged Variantsnsv5618014
Supporting Variants
SamplesHG00864
Known GenesCLCN5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17167456
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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