A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17164908



Internal ID21493043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:111842132..111842132hg38UCSC Ensembl
chrX:111085360..111085360hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5620729
Supporting Variants
SamplesNA19238
Known GenesTRPC5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17164908
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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