A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17464161



Internal ID22522046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2878026..2882463hg38UCSC Ensembl
chr12:2987192..2991629hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg384438
hg194438
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5851256
Supporting Variants
Samples
Known GenesRHNO1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17464161
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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