A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15186688



Internal ID21325512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:163119059..163119059hg38UCSC Ensembl
chr1:163088849..163088849hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3929656
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15186688
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