A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6498408



Internal ID20871618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2107741..2380115hg38UCSC Ensembl
chr17:2011035..2283409hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38272375
hg19272375
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18192505
Samples
Known GenesSGSM2, SMG6, SNORD91A, SNORD91B, SRR, TSR1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6498408
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