A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17492572



Internal ID22550499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47603792..47605741hg38UCSC Ensembl
chr3:47645282..47647231hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381950
hg191950
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5836031
Supporting Variants
Samples
Known GenesSMARCC1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17492572
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