A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6397314



Internal ID21054867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56948840..57151719hg38UCSC Ensembl
chr5:56244667..56447546hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38202880
hg19202880
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18214078
Samples
Known GenesMIER3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6397314
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer