A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5984807



Internal ID21894150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6940903..6940959hg38UCSC Ensembl
chr1:7000963..7001019hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17519477
Samples
Known GenesCAMTA1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5984807
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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