A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457292



Internal ID235341
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 StatusM
Merged Variants
Supporting Variantsnssv16991727
Samples
Known GenesC7orf50
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457292
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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