A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4752618



Internal ID20528478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137888969..137888969hg38UCSC Ensembl
chr9:140783421..140783421hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38377
hg19377
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16286003
Samples
Known GenesCACNA1B
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4752618
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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