A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16994308



Internal ID63658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:27983953..27986275hg38UCSC Ensembl
chr7:28023572..28025894hg19UCSC Ensembl
Cytoband7p15.1
Allele length
AssemblyAllele length
hg382323
hg192323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5485512
Supporting Variants
Samples
Known GenesJAZF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16994308
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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