A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6003513



Internal ID21912856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:151418665..151574024hg38UCSC Ensembl
chr5:150798226..150953585hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg38155360
hg19155360
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17567179
Samples
Known GenesFAT2, MIR6499, SLC36A1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6003513
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