A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17349885



Internal ID22553016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:87781772..87782259hg38UCSC Ensembl
chr12:88175549..88176036hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg38488
hg19488
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5939070
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17349885
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer