A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5953596



Internal ID22728875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148595522..148595522hg38UCSC Ensembl
chr7:148292614..148292614hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17431937
Samples
Known GenesC7orf33
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5953596
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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