A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6409544



Internal ID21067097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:64185277..64518899hg38UCSC Ensembl
chr5:63481104..63814726hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38333623
hg19333623
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18214087
Samples
Known GenesRGS7BP, RNF180
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6409544
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