A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17006248



Internal ID71793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:136094389..136108389hg38UCSC Ensembl
chr7:135779137..135793137hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg3814001
hg1914001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5482453
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17006248
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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