A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17599245



Internal ID21791290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53529221..53529756hg38UCSC Ensembl
chr12:53923005..53923540hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38536
hg19536
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6036869
Supporting Variants
Samples
Known GenesATF7
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17599245
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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