A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6320745



Internal ID20853846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151237389..151263593hg38UCSC Ensembl
chr1:151209865..151236069hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3826205
hg1926205
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18200412
Samples
Known GenesPIP5K1A, PSMD4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6320745
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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