A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17160802



Internal ID21427956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137888962..137888962hg38UCSC Ensembl
chr9:140783414..140783414hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5638781
Supporting Variants
SamplesHG00731
Known GenesCACNA1B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17160802
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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