A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4759192



Internal ID20535052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:30625607..30625607hg38UCSC Ensembl
chr14:31094813..31094813hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16284889
Samples
Known GenesSCFD1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4759192
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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