A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17003119



Internal ID69697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:125150183..125152488hg38UCSC Ensembl
chr7:124790237..124792542hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg382306
hg192306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5482310
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17003119
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001093


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