A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4438393



Internal ID22104573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68431720..68431720hg38UCSC Ensembl
chr17:66427861..66427861hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38181
hg19181
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15765141
Samples
Known GenesPRKAR1A, WIPI1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4438393
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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