A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17001722



Internal ID68751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117872871..117872948hg38UCSC Ensembl
chr7:117512925..117513002hg19UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5478698
Supporting Variants
Samples
Known GenesCTTNBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17001722
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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