A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6524558



Internal ID20897919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63490897..63532414hg38UCSC Ensembl
chr17:61568258..61609775hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg3841518
hg1941518
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18186297
Samples
Known GenesACE, KCNH6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6524558
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