A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17001204



Internal ID68386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:78728397..78728864hg38UCSC Ensembl
chr7:78357713..78358180hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38468
hg19468
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5480108
Supporting Variants
Samples
Known GenesMAGI2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17001204
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.122541


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