A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5493759



Internal ID270926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:100991683..100992666hg38UCSC Ensembl
chr7:100634964..100635947hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38984
hg19984
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17735720
Samples
Known GenesMUC12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5493759
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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