A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6326794



Internal ID20859931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229608974..229641980hg38UCSC Ensembl
chr1:229744721..229777727hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3833007
hg1933007
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202750
Samples
Known GenesTAF5L, URB2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6326794
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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