A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5488901



Internal ID266195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:103226000..103231000hg38UCSC Ensembl
chr7:102866447..102871447hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg385001
hg195001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17000571
Samples
Known GenesDPY19L2P2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5488901
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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