A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17490044



Internal ID22547965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:185071847..185082921hg38UCSC Ensembl
chr3:184789635..184800709hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg3811075
hg1911075
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5835700
Supporting Variants
Samples
Known GenesC3orf70
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17490044
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