A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15767482



Internal ID22101958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46753303..46753303hg38UCSC Ensembl
chr19:47256560..47256560hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4441979
Supporting Variants
Samples
Known GenesFKRP
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nssv15767482
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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