A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17002930



Internal ID69570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:99929389..99940779hg38UCSC Ensembl
chr7:99527012..99538402hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3811391
hg1911391
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6142783
Supporting Variants
Samples
Known GenesGJC3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17002930
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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