A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16978130



Internal ID52824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:11801292..11801329hg38UCSC Ensembl
chr6:11801525..11801562hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5550506
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16978130
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.253981


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