A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4444723



Internal ID22110903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17768315..17768315hg38UCSC Ensembl
chr1:18094810..18094810hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15757566
Samples
Known GenesACTL8
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4444723
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