A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4447513



Internal ID22113690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:98930274..98930274hg38UCSC Ensembl
chr2:99546737..99546737hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15765244
Samples
Known GenesKIAA1211L
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4447513
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