A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5482496



Internal ID259953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:39419020..39424141hg38UCSC Ensembl
chr7:39458619..39463740hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg385122
hg195122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16996245
Samples
Known GenesPOU6F2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5482496
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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