A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17004052



Internal ID70333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:107795460..107797900hg38UCSC Ensembl
chr7:107435905..107438345hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg382441
hg192441
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5485643
Supporting Variants
Samples
Known GenesSLC26A3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17004052
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