A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17617330



Internal ID21809377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54459709..54460024hg38UCSC Ensembl
chr12:54853493..54853808hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6034130
Supporting Variants
Samples
Known GenesGTSF1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17617330
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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