A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5477676



Internal ID255248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66748771..66896309hg38UCSC Ensembl
chr7:66213758..66361296hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38147539
hg19147539
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16997236
Samples
Known GenesGTF2IRD1P1, RABGEF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5477676
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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