A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544064



Internal ID318254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:78006852..78006889hg38UCSC Ensembl
chr7:77636169..77636206hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16999146
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544064
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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