A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16994787



Internal ID63954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:40878747..40878950hg38UCSC Ensembl
chr7:40918346..40918549hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38204
hg19204
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5480712
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16994787
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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