A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16993437



Internal ID63080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:12999208..12999376hg38UCSC Ensembl
chr7:13038833..13039001hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5457962
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16993437
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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