A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15751302



Internal ID21386381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137882549..137890548hg38UCSC Ensembl
chr9:140777001..140785000hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg388000
hg198000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4435703
Supporting Variants
SamplesMDQ010
Known GenesCACNA1B
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15751302
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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