A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17432000



Internal ID22489871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66989249..66989249hg38UCSC Ensembl
chr7:66454236..66454236hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5962920
Supporting Variants
Samples
Known GenesSBDS
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17432000
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