A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5613976



Internal ID21562281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:111986330..111986330hg38UCSC Ensembl
chrX:111229558..111229558hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg386058
hg196058
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17164909
SamplesHG00731
Known GenesTRPC5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5613976
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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