A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6400566



Internal ID21058119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:122361297..122364281hg38UCSC Ensembl
chr5:121696992..121699976hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg382985
hg192985
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18213135
Samples
Known GenesSNCAIP
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6400566
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