A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17355829



Internal ID22581498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:65745017..65745104hg38UCSC Ensembl
chr12:66138797..66138884hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5942350
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17355829
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