A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17003476



Internal ID69941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:124465403..124469162hg38UCSC Ensembl
chr7:124105457..124109216hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg383760
hg193760
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5474165
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17003476
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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