A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6502462



Internal ID20875707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8464301..8473800hg38UCSC Ensembl
chr17:8367619..8377118hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg389500
hg199500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18194354
Samples
Known GenesNDEL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6502462
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