A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5475648



Internal ID253285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:123638415..123638489hg38UCSC Ensembl
chr9:126400694..126400768hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17027188
Samples
Known GenesDENND1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5475648
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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