A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17614757



Internal ID21806804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29558313..29558371hg38UCSC Ensembl
chr13:30132450..30132508hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6020821
Supporting Variants
Samples
Known GenesSLC7A1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17614757
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