A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17000219



Internal ID67733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102481600..102691000hg38UCSC Ensembl
chr7:102122047..102331447hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38209401
hg19209401
Variant TypeOTHER copy number variation
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5423572
Supporting Variants
Samples
Known GenesPOLR2J2, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B, UPK3BL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17000219
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.49043


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