A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5482809



Internal ID260255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:56852242..56972242hg38UCSC Ensembl
chr7:56919935..57039949hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38120001
hg19120015
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16995978
Samples
Known GenesLOC100130849, MIR4283-1, MIR4283-2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5482809
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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