A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17603153



Internal ID21795200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49906197..49912849hg38UCSC Ensembl
chr13:50480333..50486985hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg386653
hg196653
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6037796
Supporting Variants
Samples
Known GenesSPRYD7
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17603153
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