A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6397028



Internal ID21054581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:129554447..129555046hg38UCSC Ensembl
chr5:128890140..128890739hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38600
hg19600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18125570
Samples
Known GenesADAMTS19
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6397028
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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