A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17160801



Internal ID21485947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137888941..137888941hg38UCSC Ensembl
chr9:140783393..140783393hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38472
hg19472
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5640349
Supporting Variants
SamplesNA12878
Known GenesCACNA1B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17160801
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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