A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6402629



Internal ID21060182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:102258109..102262791hg38UCSC Ensembl
chr5:101593813..101598495hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg384683
hg194683
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18212600
Samples
Known GenesSLCO4C1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6402629
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