A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6399048



Internal ID21056601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:93558101..93628600hg38UCSC Ensembl
chr5:92893807..92964306hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3870500
hg1970500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18215017
Samples
Known GenesFAM172A, MIR2277, MIR548AO, NR2F1, NR2F1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6399048
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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