A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6030n223



Internal ID22808998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180927801..181343300hg38UCSC Ensembl
chr5:180354801..180770301hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38415500
hg19415501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6408274, nsv6399064
Samples
Known GenesBTNL3, BTNL8, BTNL9, GNB2L1, LOC100132062, LOC100132287, LOC100133331, LOC102577426, MIR4638, MIR8089, OR2V1, OR2V2, SNORD95, SNORD96A, TRIM41, TRIM52, TRIM52-AS1, TRIM7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv6030n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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