A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472748



Internal ID250452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:12889891..12951514hg38UCSC Ensembl
chr7:12929516..12991139hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3861624
hg1961624
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16993424
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472748
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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