A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16994780



Internal ID63950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:40823813..40829282hg38UCSC Ensembl
chr7:40863412..40868881hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg385470
hg195470
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5492032
Supporting Variants
Samples
Known GenesC7orf10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16994780
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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