A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5659232



Internal ID21607537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50583761..50583761hg38UCSC Ensembl
chr17:48661122..48661122hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg381999
hg191999
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17088853
SamplesHG03009
Known GenesCACNA1G
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5659232
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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