A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4447011



Internal ID22113188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137948965..137948965hg38UCSC Ensembl
chr9:140843417..140843417hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38351
hg19351
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15767969
Samples
Known GenesCACNA1B
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4447011
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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