A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6507085



Internal ID20880373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:38290477..38314887hg38UCSC Ensembl
chr17:36446442..36470788hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3824411
hg1924347
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18188328
Samples
Known GenesMRPL45
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6507085
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