A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6475759



Internal ID21133312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75049801..75054200hg38UCSC Ensembl
chr14:75516504..75520903hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg384400
hg194400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18191233
Samples
Known GenesACYP1, MLH3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6475759
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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