A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4443969



Internal ID22110150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58830180..58830180hg38UCSC Ensembl
chr20:57405235..57405235hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg38575
hg19575
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15761108
Samples
Known GenesGNAS-AS1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4443969
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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