A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5485512



Internal ID262901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:27983953..27986275hg38UCSC Ensembl
chr7:28023572..28025894hg19UCSC Ensembl
Cytoband7p15.1
Allele length
AssemblyAllele length
hg382323
hg192323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16994308
Samples
Known GenesJAZF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5485512
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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