A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4438394



Internal ID22104574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68495997..68495997hg38UCSC Ensembl
chr17:66492138..66492138hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15767541
Samples
Known GenesPRKAR1A
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4438394
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer