A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6407997



Internal ID21065550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180719401..181088900hg38UCSC Ensembl
chr5:180146401..180515900hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38369500
hg19369500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18215148
Samples
Known GenesBTNL3, BTNL8, BTNL9, HEIH, LINC00847, MGAT1, MIR8089, OR2Y1, ZFP62
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6407997
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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