A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5483016



Internal ID260459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44211125..44212246hg38UCSC Ensembl
chr7:44250724..44251845hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg381122
hg191122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16997338
Samples
Known GenesYKT6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5483016
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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