A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6321390



Internal ID20854495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45472188..45482916hg38UCSC Ensembl
chr1:45937860..45948588hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3810729
hg1910729
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201358
Samples
Known GenesTESK2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6321390
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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