A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17005309



Internal ID71164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:154828344..154828371hg38UCSC Ensembl
chr7:154620054..154620081hg19UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5409081
Supporting Variants
Samples
Known GenesDPP6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17005309
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00814


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