A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16999124



Internal ID66982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:77802514..77802565hg38UCSC Ensembl
chr7:77431831..77431882hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5406456
Supporting Variants
Samples
Known GenesPHTF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16999124
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00359


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