A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16991727



Internal ID61912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:1080356..1080625hg38UCSC Ensembl
chr7:1119992..1120261hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5457292
Supporting Variants
Samples
Known GenesC7orf50
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16991727
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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