A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5492201



Internal ID269421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:39145841..39229377hg38UCSC Ensembl
chr7:39185441..39268976hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3883537
hg1983536
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16995164
Samples
Known GenesPOU6F2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5492201
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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