A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5482153



Internal ID259611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:56993800..57540242hg38UCSC Ensembl
chr7:57061507..57599948hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38546443
hg19538442
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16995987
Samples
Known GenesGUSBP10, MIR3147, ZNF479, ZNF716
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5482153
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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