A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16999484



Internal ID67226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:85178862..85183101hg38UCSC Ensembl
chr7:84808178..84812417hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg384240
hg194240
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5474356
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16999484
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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