A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17046695



Internal ID98945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:64154782..64157117hg38UCSC Ensembl
chr11:63922254..63924589hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg382336
hg192336
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5506594
Supporting Variants
Samples
Known GenesMACROD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17046695
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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