A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16994629



Internal ID63855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:28973617..28973617hg38UCSC Ensembl
chr7:29013233..29013233hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5403506
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16994629
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.025846


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