A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15764713



Internal ID22099184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:118042421..118042421hg38UCSC Ensembl
chr2:118799997..118799997hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4448399
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nssv15764713
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