A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5483889



Internal ID261316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:100215094..100218853hg38UCSC Ensembl
chr7:99812717..99816476hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg383760
hg193760
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17000509
Samples
Known GenesGATS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5483889
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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