A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6315958



Internal ID20849034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224924201..224933300hg38UCSC Ensembl
chr1:225111903..225121002hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg389100
hg199100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202685
Samples
Known GenesDNAH14
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6315958
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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