A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423572



Internal ID202588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102481600..102691000hg38UCSC Ensembl
chr7:102122047..102331447hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38209401
hg19209401
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17000219
Samples
Known GenesPOLR2J2, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B, UPK3BL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423572
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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