A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15745736



Internal ID21390626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137882549..137891548hg38UCSC Ensembl
chr9:140777001..140786000hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg389000
hg199000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4435704
Supporting Variants
SamplesNB11
Known GenesCACNA1B
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15745736
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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