A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15195518



Internal ID21334425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:84768797..84768797hg38UCSC Ensembl
chr1:85234480..85234480hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3927673
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15195518
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