A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4447009



Internal ID22113186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137889127..137889127hg38UCSC Ensembl
chr9:140783579..140783579hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38470
hg19470
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15762262
Samples
Known GenesCACNA1B
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4447009
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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