A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16994478



Internal ID63758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:39591650..39591650hg38UCSC Ensembl
chr7:39631249..39631249hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5537238
Supporting Variants
Samples
Known GenesYAE1D1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16994478
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004536


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