A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16993685



Internal ID63247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:12394120..12496312hg38UCSC Ensembl
chr7:12433746..12535938hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38102193
hg19102193
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5473162
Supporting Variants
Samples
Known GenesVWDE
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16993685
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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