A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16994655



Internal ID63871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:33155705..33155705hg38UCSC Ensembl
chr7:33195317..33195317hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5404521
Supporting Variants
Samples
Known GenesBBS9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16994655
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.143162


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