A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5917110



Internal ID22692329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66918324..66934475hg38UCSC Ensembl
chr7:66383311..66399462hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3816152
hg1916152
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17437013
Samples
Known GenesTMEM248
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5917110
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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