A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17000975



Internal ID68215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74406319..74406443hg38UCSC Ensembl
chr7:73820649..73820773hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5480123
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17000975
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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