A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6408274



Internal ID21065827
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 Variantsdgv6030n223
Supporting Variantsnssv18215168
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)nsv6408274
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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