A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6331458



Internal ID20864621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1489664..1527213hg38UCSC Ensembl
chr1:1425044..1462593hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3837550
hg1937550
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv24n223
Supporting Variantsnssv18200898
Samples
Known GenesATAD3A, ATAD3B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6331458
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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