A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5493883



Internal ID271047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:83459967..83465262hg38UCSC Ensembl
chr7:83089283..83094578hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg385296
hg195296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16999479
Samples
Known GenesSEMA3E
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5493883
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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