A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6142335



Internal ID341535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:99027084..99036459hg38UCSC Ensembl
chr7:98624707..98634082hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg389376
hg199376
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17000712
Samples
Known GenesSMURF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6142335
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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