A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18196429



Internal ID20763469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32816001..32824800hg38UCSC Ensembl
chr17:31143019..31151818hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg388800
hg198800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6496005
Supporting Variants
Samples
Known GenesMYO1D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18196429
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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