A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16994477



Internal ID63757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:39591650..39591655hg38UCSC Ensembl
chr7:39631249..39631254hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg386
hg196
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5561384
Supporting Variants
Samples
Known GenesYAE1D1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16994477
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.005151


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