A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv24n223



Internal ID22802992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1489664..1530653hg38UCSC Ensembl
chr1:1425044..1466033hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3840990
hg1940990
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6334677, nsv6331458
Samples
Known GenesATAD3A, ATAD3B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv24n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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