A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17349897



Internal ID22563858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56167897..56167950hg38UCSC Ensembl
chr12:56561681..56561734hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5941828
Supporting Variants
Samples
Known GenesSMARCC2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17349897
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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