A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17167421



Internal ID21475854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:48918347..48918347hg38UCSC Ensembl
chrX:48775624..48775624hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5621776
Supporting Variants
SamplesHG03486
Known GenesPIM2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17167421
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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