A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17048496



Internal ID100207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:75752532..75756964hg38UCSC Ensembl
chr11:75463577..75468009hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg384433
hg194433
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5502358
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17048496
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.005932


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