A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16996263



Internal ID64957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:39569268..39569328hg38UCSC Ensembl
chr7:39608867..39608927hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5487210
Supporting Variants
Samples
Known GenesYAE1D1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16996263
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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