A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5910387



Internal ID22685598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66955143..66965455hg38UCSC Ensembl
chr7:66420130..66430442hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3810313
hg1910313
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17444949
Samples
Known GenesTMEM248
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5910387
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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